SNP Links for Protein (Select 1034622647) - SNP

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Links from Protein

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Select item 14907069451.

rs1490706945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:42081982 (GRCh38)
20:40710622 (GRCh37)
Canonical SPDI:: NC_000020.11:42081981:A:G
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42081982A>G, NC_000020.10:g.40710622A>G, NG_033880.2:g.1112936T>C, NM_007050.6:c.4172T>C, NM_007050.5:c.4172T>C, NM_133170.4:c.4229T>C, NM_133170.3:c.4229T>C, NM_001394024.1:c.4229T>C, NM_001394025.1:c.4196T>C, XR_244179.4:n.226A>G, XR_244179.3:n.24A>G, XM_017027611.2:c.4217T>C, XM_017027611.1:c.4217T>C, XM_017027612.2:c.4214T>C, XM_017027612.1:c.4214T>C, XM_017027613.2:c.4157T>C, XM_017027613.1:c.4157T>C, XR_001754608.2:n.226A>G, XR_001754612.2:n.226A>G, XR_001754612.1:n.24A>G, XM_047439846.1:c.4214T>C, XM_047439847.1:c.4211T>C, XM_047439848.1:c.4169T>C, NP_008981.4:p.Ile1391Thr, NP_573400.3:p.Ile1410Thr, NP_001380953.1:p.Ile1410Thr, NP_001380954.1:p.Ile1399Thr, XP_016883100.1:p.Ile1406Thr, XP_016883101.1:p.Ile1405Thr, XP_016883102.1:p.Ile1386Thr, XP_047295802.1:p.Ile1405Thr, XP_047295803.1:p.Ile1404Thr, XP_047295804.1:p.Ile1390Thr

Select item 14901679382.

rs1490167938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:42756613 (GRCh38)
20:41385253 (GRCh37)
Canonical SPDI:: NC_000020.11:42756612:G:A
Gene:: PTPRT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.42756613G>A, NC_000020.10:g.41385253G>A, NG_033880.2:g.438305C>T, NM_007050.6:c.708C>T, NM_007050.5:c.708C>T, NM_133170.4:c.708C>T, NM_133170.3:c.708C>T, NM_001394024.1:c.708C>T, NM_001394025.1:c.708C>T, NM_001394026.1:c.708C>T, XM_017027611.2:c.723C>T, XM_017027611.1:c.723C>T, XM_017027612.2:c.723C>T, XM_017027612.1:c.723C>T, XM_017027613.2:c.723C>T, XM_017027613.1:c.723C>T, XM_047439846.1:c.723C>T, XM_047439847.1:c.723C>T, XM_047439848.1:c.708C>T

Select item 14901322043.

rs1490132204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:42084836 (GRCh38)
20:40713476 (GRCh37)
Canonical SPDI:: NC_000020.11:42084835:C:A
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.42084836C>A, NC_000020.10:g.40713476C>A, NG_033880.2:g.1110082G>T, NM_007050.6:c.3982G>T, NM_007050.5:c.3982G>T, NM_133170.4:c.4039G>T, NM_133170.3:c.4039G>T, NM_001394024.1:c.4039G>T, NM_001394025.1:c.4006G>T, XM_017027611.2:c.4027G>T, XM_017027611.1:c.4027G>T, XM_017027612.2:c.4024G>T, XM_017027612.1:c.4024G>T, XM_017027613.2:c.3967G>T, XM_017027613.1:c.3967G>T, XM_047439846.1:c.4024G>T, XM_047439847.1:c.4021G>T, XM_047439848.1:c.3979G>T, NP_008981.4:p.Gly1328Cys, NP_573400.3:p.Gly1347Cys, NP_001380953.1:p.Gly1347Cys, NP_001380954.1:p.Gly1336Cys, XP_016883100.1:p.Gly1343Cys, XP_016883101.1:p.Gly1342Cys, XP_016883102.1:p.Gly1323Cys, XP_047295802.1:p.Gly1342Cys, XP_047295803.1:p.Gly1341Cys, XP_047295804.1:p.Gly1327Cys

Select item 14901116634.

rs1490111663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:42756541 (GRCh38)
20:41385181 (GRCh37)
Canonical SPDI:: NC_000020.11:42756540:C:T
Gene:: PTPRT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.42756541C>T, NC_000020.10:g.41385181C>T, NG_033880.2:g.438377G>A, NM_007050.6:c.780G>A, NM_007050.5:c.780G>A, NM_133170.4:c.780G>A, NM_133170.3:c.780G>A, NM_001394024.1:c.780G>A, NM_001394025.1:c.780G>A, NM_001394026.1:c.780G>A, XM_017027611.2:c.795G>A, XM_017027611.1:c.795G>A, XM_017027612.2:c.795G>A, XM_017027612.1:c.795G>A, XM_017027613.2:c.795G>A, XM_017027613.1:c.795G>A, XM_047439846.1:c.795G>A, XM_047439847.1:c.795G>A, XM_047439848.1:c.780G>A

Select item 14891438295.

rs1489143829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:42098480 (GRCh38)
20:40727120 (GRCh37)
Canonical SPDI:: NC_000020.11:42098479:G:C
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42098480G>C, NC_000020.10:g.40727120G>C, NG_033880.2:g.1096438C>G, NM_007050.6:c.3787C>G, NM_007050.5:c.3787C>G, NM_133170.4:c.3844C>G, NM_133170.3:c.3844C>G, NM_001394024.1:c.3844C>G, NM_001394025.1:c.3811C>G, NM_001394026.1:c.3784C>G, XM_017027611.2:c.3832C>G, XM_017027611.1:c.3832C>G, XM_017027612.2:c.3829C>G, XM_017027612.1:c.3829C>G, XM_017027613.2:c.3772C>G, XM_017027613.1:c.3772C>G, XM_047439846.1:c.3829C>G, XM_047439847.1:c.3826C>G, XM_047439848.1:c.3784C>G, NP_008981.4:p.Leu1263Val, NP_573400.3:p.Leu1282Val, NP_001380953.1:p.Leu1282Val, NP_001380954.1:p.Leu1271Val, NP_001380955.1:p.Leu1262Val, XP_016883100.1:p.Leu1278Val, XP_016883101.1:p.Leu1277Val, XP_016883102.1:p.Leu1258Val, XP_047295802.1:p.Leu1277Val, XP_047295803.1:p.Leu1276Val, XP_047295804.1:p.Leu1262Val

Select item 14888972776.

rs1488897277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:42081900 (GRCh38)
20:40710540 (GRCh37)
Canonical SPDI:: NC_000020.11:42081899:G:A
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.42081900G>A, NC_000020.10:g.40710540G>A, NG_033880.2:g.1113018C>T, NM_007050.6:c.4254C>T, NM_007050.5:c.4254C>T, NM_133170.4:c.4311C>T, NM_133170.3:c.4311C>T, NM_001394024.1:c.4311C>T, NM_001394025.1:c.4278C>T, XR_244179.4:n.144G>A, XM_017027611.2:c.4299C>T, XM_017027611.1:c.4299C>T, XM_017027612.2:c.4296C>T, XM_017027612.1:c.4296C>T, XM_017027613.2:c.4239C>T, XM_017027613.1:c.4239C>T, XR_001754608.2:n.144G>A, XR_001754612.2:n.144G>A, XM_047439846.1:c.4296C>T, XM_047439847.1:c.4293C>T, XM_047439848.1:c.4251C>T

Select item 14887857207.

rs1488785720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:42081957 (GRCh38)
20:40710597 (GRCh37)
Canonical SPDI:: NC_000020.11:42081956:C:T
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42081957C>T, NC_000020.10:g.40710597C>T, NG_033880.2:g.1112961G>A, NM_007050.6:c.4197G>A, NM_007050.5:c.4197G>A, NM_133170.4:c.4254G>A, NM_133170.3:c.4254G>A, NM_001394024.1:c.4254G>A, NM_001394025.1:c.4221G>A, XR_244179.4:n.201C>T, XM_017027611.2:c.4242G>A, XM_017027611.1:c.4242G>A, XM_017027612.2:c.4239G>A, XM_017027612.1:c.4239G>A, XM_017027613.2:c.4182G>A, XM_017027613.1:c.4182G>A, XR_001754608.2:n.201C>T, XR_001754612.2:n.201C>T, XM_047439846.1:c.4239G>A, XM_047439847.1:c.4236G>A, XM_047439848.1:c.4194G>A

Select item 14879718588.

rs1487971858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:42350696 (GRCh38)
20:40979336 (GRCh37)
Canonical SPDI:: NC_000020.11:42350695:T:C
Gene:: PTPRT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42350696T>C, NC_000020.10:g.40979336T>C, NG_033880.2:g.844222A>G, NM_007050.6:c.1797A>G, NM_007050.5:c.1797A>G, NM_133170.4:c.1797A>G, NM_133170.3:c.1797A>G, NM_001394024.1:c.1797A>G, NM_001394025.1:c.1797A>G, NM_001394026.1:c.1797A>G, XM_017027611.2:c.1812A>G, XM_017027611.1:c.1812A>G, XM_017027612.2:c.1812A>G, XM_017027612.1:c.1812A>G, XM_017027613.2:c.1812A>G, XM_017027613.1:c.1812A>G, XM_047439846.1:c.1812A>G, XM_047439847.1:c.1812A>G, XM_047439848.1:c.1797A>G

Select item 14876486079.

rs1487648607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:42115253 (GRCh38)
20:40743893 (GRCh37)
Canonical SPDI:: NC_000020.11:42115252:C:G,NC_000020.11:42115252:C:T
Gene:: PTPRT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.42115253C>G, NC_000020.11:g.42115253C>T, NC_000020.10:g.40743893C>G, NC_000020.10:g.40743893C>T, NG_033880.2:g.1079665G>C, NG_033880.2:g.1079665G>A, NM_007050.6:c.3045G>C, NM_007050.6:c.3045G>A, NM_007050.5:c.3045G>C, NM_007050.5:c.3045G>A, NM_133170.4:c.3102G>C, NM_133170.4:c.3102G>A, NM_133170.3:c.3102G>C, NM_133170.3:c.3102G>A, NM_001394024.1:c.3102G>C, NM_001394024.1:c.3102G>A, NM_001394025.1:c.3069G>C, NM_001394025.1:c.3069G>A, NM_001394026.1:c.3042G>C, NM_001394026.1:c.3042G>A, XM_017027611.2:c.3090G>C, XM_017027611.2:c.3090G>A, XM_017027611.1:c.3090G>C, XM_017027611.1:c.3090G>A, XM_017027612.2:c.3087G>C, XM_017027612.2:c.3087G>A, XM_017027612.1:c.3087G>C, XM_017027612.1:c.3087G>A, XM_017027613.2:c.3030G>C, XM_017027613.2:c.3030G>A, XM_017027613.1:c.3030G>C, XM_017027613.1:c.3030G>A, XM_047439846.1:c.3087G>C, XM_047439846.1:c.3087G>A, XM_047439847.1:c.3084G>C, XM_047439847.1:c.3084G>A, XM_047439848.1:c.3042G>C, XM_047439848.1:c.3042G>A

Select item 148575732310.

rs1485757323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:42081887 (GRCh38)
20:40710527 (GRCh37)
Canonical SPDI:: NC_000020.11:42081886:T:A
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42081887T>A, NC_000020.10:g.40710527T>A, NG_033880.2:g.1113031A>T, NM_007050.6:c.4267A>T, NM_007050.5:c.4267A>T, NM_133170.4:c.4324A>T, NM_133170.3:c.4324A>T, NM_001394024.1:c.4324A>T, NM_001394025.1:c.4291A>T, XR_244179.4:n.131T>A, XM_017027611.2:c.4312A>T, XM_017027611.1:c.4312A>T, XM_017027612.2:c.4309A>T, XM_017027612.1:c.4309A>T, XM_017027613.2:c.4252A>T, XM_017027613.1:c.4252A>T, XR_001754608.2:n.131T>A, XR_001754612.2:n.131T>A, XM_047439846.1:c.4309A>T, XM_047439847.1:c.4306A>T, XM_047439848.1:c.4264A>T, NP_008981.4:p.Thr1423Ser, NP_573400.3:p.Thr1442Ser, NP_001380953.1:p.Thr1442Ser, NP_001380954.1:p.Thr1431Ser, XP_016883100.1:p.Thr1438Ser, XP_016883101.1:p.Thr1437Ser, XP_016883102.1:p.Thr1418Ser, XP_047295802.1:p.Thr1437Ser, XP_047295803.1:p.Thr1436Ser, XP_047295804.1:p.Thr1422Ser

Select item 148512934411.

rs1485129344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:42118417 (GRCh38)
20:40747057 (GRCh37)
Canonical SPDI:: NC_000020.11:42118416:C:T
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42118417C>T, NC_000020.10:g.40747057C>T, NG_033880.2:g.1076501G>A, NM_007050.6:c.2968G>A, NM_007050.5:c.2968G>A, NM_133170.4:c.3025G>A, NM_133170.3:c.3025G>A, NM_001394024.1:c.2965G>A, NM_001394025.1:c.2992G>A, NM_001394026.1:c.2965G>A, XM_017027611.2:c.2953G>A, XM_017027611.1:c.2953G>A, XM_017027612.2:c.3010G>A, XM_017027612.1:c.3010G>A, XM_017027613.2:c.2953G>A, XM_017027613.1:c.2953G>A, XM_047439846.1:c.2950G>A, XM_047439847.1:c.3007G>A, XM_047439848.1:c.2965G>A, NP_008981.4:p.Val990Met, NP_573400.3:p.Val1009Met, NP_001380953.1:p.Val989Met, NP_001380954.1:p.Val998Met, NP_001380955.1:p.Val989Met, XP_016883100.1:p.Val985Met, XP_016883101.1:p.Val1004Met, XP_016883102.1:p.Val985Met, XP_047295802.1:p.Val984Met, XP_047295803.1:p.Val1003Met, XP_047295804.1:p.Val989Met

Select item 148379260512.

rs1483792605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:42270449 (GRCh38)
20:40899089 (GRCh37)
Canonical SPDI:: NC_000020.11:42270448:T:C
Gene:: PTPRT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42270449T>C, NC_000020.10:g.40899089T>C, NG_033880.2:g.924469A>G, NM_133170.4:c.2181A>G, NM_133170.3:c.2181A>G, NM_001394025.1:c.2181A>G, XM_017027612.2:c.2196A>G, XM_017027612.1:c.2196A>G, XM_047439847.1:c.2196A>G

Select item 148181926113.

rs1481819261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:42161453 (GRCh38)
20:40790093 (GRCh37)
Canonical SPDI:: NC_000020.11:42161452:G:A,NC_000020.11:42161452:G:C
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.42161453G>A, NC_000020.11:g.42161453G>C, NC_000020.10:g.40790093G>A, NC_000020.10:g.40790093G>C, NG_033880.2:g.1033465C>T, NG_033880.2:g.1033465C>G, NM_007050.6:c.2581C>T, NM_007050.6:c.2581C>G, NM_007050.5:c.2581C>T, NM_007050.5:c.2581C>G, NM_133170.4:c.2638C>T, NM_133170.4:c.2638C>G, NM_133170.3:c.2638C>T, NM_133170.3:c.2638C>G, NM_001394024.1:c.2578C>T, NM_001394024.1:c.2578C>G, NM_001394025.1:c.2605C>T, NM_001394025.1:c.2605C>G, NM_001394026.1:c.2578C>T, NM_001394026.1:c.2578C>G, XM_017027611.2:c.2566C>T, XM_017027611.2:c.2566C>G, XM_017027611.1:c.2566C>T, XM_017027611.1:c.2566C>G, XM_017027612.2:c.2623C>T, XM_017027612.2:c.2623C>G, XM_017027612.1:c.2623C>T, XM_017027612.1:c.2623C>G, XM_017027613.2:c.2566C>T, XM_017027613.2:c.2566C>G, XM_017027613.1:c.2566C>T, XM_017027613.1:c.2566C>G, XM_047439846.1:c.2563C>T, XM_047439846.1:c.2563C>G, XM_047439847.1:c.2620C>T, XM_047439847.1:c.2620C>G, XM_047439848.1:c.2578C>T, XM_047439848.1:c.2578C>G, NP_008981.4:p.Pro861Ser, NP_008981.4:p.Pro861Ala, NP_573400.3:p.Pro880Ser, NP_573400.3:p.Pro880Ala, NP_001380953.1:p.Pro860Ser, NP_001380953.1:p.Pro860Ala, NP_001380954.1:p.Pro869Ser, NP_001380954.1:p.Pro869Ala, NP_001380955.1:p.Pro860Ser, NP_001380955.1:p.Pro860Ala, XP_016883100.1:p.Pro856Ser, XP_016883100.1:p.Pro856Ala, XP_016883101.1:p.Pro875Ser, XP_016883101.1:p.Pro875Ala, XP_016883102.1:p.Pro856Ser, XP_016883102.1:p.Pro856Ala, XP_047295802.1:p.Pro855Ser, XP_047295802.1:p.Pro855Ala, XP_047295803.1:p.Pro874Ser, XP_047295803.1:p.Pro874Ala, XP_047295804.1:p.Pro860Ser, XP_047295804.1:p.Pro860Ala

Select item 148180184014.

rs1481801840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:42315884 (GRCh38)
20:40944524 (GRCh37)
Canonical SPDI:: NC_000020.11:42315883:A:G
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.42315884A>G, NC_000020.10:g.40944524A>G, NG_033880.2:g.879034T>C, NM_007050.6:c.1978T>C, NM_007050.5:c.1978T>C, NM_133170.4:c.1978T>C, NM_133170.3:c.1978T>C, NM_001394024.1:c.1978T>C, NM_001394025.1:c.1978T>C, NM_001394026.1:c.1978T>C, XM_017027611.2:c.1993T>C, XM_017027611.1:c.1993T>C, XM_017027612.2:c.1993T>C, XM_017027612.1:c.1993T>C, XM_017027613.2:c.1993T>C, XM_017027613.1:c.1993T>C, XM_047439846.1:c.1993T>C, XM_047439847.1:c.1993T>C, XM_047439848.1:c.1978T>C, NP_008981.4:p.Ser660Pro, NP_573400.3:p.Ser660Pro, NP_001380953.1:p.Ser660Pro, NP_001380954.1:p.Ser660Pro, NP_001380955.1:p.Ser660Pro, XP_016883100.1:p.Ser665Pro, XP_016883101.1:p.Ser665Pro, XP_016883102.1:p.Ser665Pro, XP_047295802.1:p.Ser665Pro, XP_047295803.1:p.Ser665Pro, XP_047295804.1:p.Ser660Pro

Select item 148061677815.

rs1480616778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:42472407 (GRCh38)
20:41101047 (GRCh37)
Canonical SPDI:: NC_000020.11:42472406:C:T
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42472407C>T, NC_000020.10:g.41101047C>T, NG_033880.2:g.722511G>A, NM_007050.6:c.1309G>A, NM_007050.5:c.1309G>A, NM_133170.4:c.1309G>A, NM_133170.3:c.1309G>A, NM_001394024.1:c.1309G>A, NM_001394025.1:c.1309G>A, NM_001394026.1:c.1309G>A, XM_017027611.2:c.1324G>A, XM_017027611.1:c.1324G>A, XM_017027612.2:c.1324G>A, XM_017027612.1:c.1324G>A, XM_017027613.2:c.1324G>A, XM_017027613.1:c.1324G>A, XM_047439846.1:c.1324G>A, XM_047439847.1:c.1324G>A, XM_047439848.1:c.1309G>A, NP_008981.4:p.Ala437Thr, NP_573400.3:p.Ala437Thr, NP_001380953.1:p.Ala437Thr, NP_001380954.1:p.Ala437Thr, NP_001380955.1:p.Ala437Thr, XP_016883100.1:p.Ala442Thr, XP_016883101.1:p.Ala442Thr, XP_016883102.1:p.Ala442Thr, XP_047295802.1:p.Ala442Thr, XP_047295803.1:p.Ala442Thr, XP_047295804.1:p.Ala437Thr

Select item 148038379216.

rs1480383792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:42141989 (GRCh38)
20:40770629 (GRCh37)
Canonical SPDI:: NC_000020.11:42141988:C:A
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.42141989C>A, NC_000020.10:g.40770629C>A, NG_033880.2:g.1052929G>T, NM_007050.6:c.2696G>T, NM_007050.5:c.2696G>T, NM_133170.4:c.2753G>T, NM_133170.3:c.2753G>T, NM_001394024.1:c.2693G>T, NM_001394025.1:c.2720G>T, NM_001394026.1:c.2693G>T, XM_017027611.2:c.2681G>T, XM_017027611.1:c.2681G>T, XM_017027612.2:c.2738G>T, XM_017027612.1:c.2738G>T, XM_017027613.2:c.2681G>T, XM_017027613.1:c.2681G>T, XM_047439846.1:c.2678G>T, XM_047439847.1:c.2735G>T, XM_047439848.1:c.2693G>T, NP_008981.4:p.Gly899Val, NP_573400.3:p.Gly918Val, NP_001380953.1:p.Gly898Val, NP_001380954.1:p.Gly907Val, NP_001380955.1:p.Gly898Val, XP_016883100.1:p.Gly894Val, XP_016883101.1:p.Gly913Val, XP_016883102.1:p.Gly894Val, XP_047295802.1:p.Gly893Val, XP_047295803.1:p.Gly912Val, XP_047295804.1:p.Gly898Val

Select item 148011736117.

rs1480117361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:42084797 (GRCh38)
20:40713437 (GRCh37)
Canonical SPDI:: NC_000020.11:42084796:G:C,NC_000020.11:42084796:G:T
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000020.11:g.42084797G>C, NC_000020.11:g.42084797G>T, NC_000020.10:g.40713437G>C, NC_000020.10:g.40713437G>T, NG_033880.2:g.1110121C>G, NG_033880.2:g.1110121C>A, NM_007050.6:c.4021C>G, NM_007050.6:c.4021C>A, NM_007050.5:c.4021C>G, NM_007050.5:c.4021C>A, NM_133170.4:c.4078C>G, NM_133170.4:c.4078C>A, NM_133170.3:c.4078C>G, NM_133170.3:c.4078C>A, NM_001394024.1:c.4078C>G, NM_001394024.1:c.4078C>A, NM_001394025.1:c.4045C>G, NM_001394025.1:c.4045C>A, XM_017027611.2:c.4066C>G, XM_017027611.2:c.4066C>A, XM_017027611.1:c.4066C>G, XM_017027611.1:c.4066C>A, XM_017027612.2:c.4063C>G, XM_017027612.2:c.4063C>A, XM_017027612.1:c.4063C>G, XM_017027612.1:c.4063C>A, XM_017027613.2:c.4006C>G, XM_017027613.2:c.4006C>A, XM_017027613.1:c.4006C>G, XM_017027613.1:c.4006C>A, XM_047439846.1:c.4063C>G, XM_047439846.1:c.4063C>A, XM_047439847.1:c.4060C>G, XM_047439847.1:c.4060C>A, XM_047439848.1:c.4018C>G, XM_047439848.1:c.4018C>A, NP_008981.4:p.Pro1341Ala, NP_008981.4:p.Pro1341Thr, NP_573400.3:p.Pro1360Ala, NP_573400.3:p.Pro1360Thr, NP_001380953.1:p.Pro1360Ala, NP_001380953.1:p.Pro1360Thr, NP_001380954.1:p.Pro1349Ala, NP_001380954.1:p.Pro1349Thr, XP_016883100.1:p.Pro1356Ala, XP_016883100.1:p.Pro1356Thr, XP_016883101.1:p.Pro1355Ala, XP_016883101.1:p.Pro1355Thr, XP_016883102.1:p.Pro1336Ala, XP_016883102.1:p.Pro1336Thr, XP_047295802.1:p.Pro1355Ala, XP_047295802.1:p.Pro1355Thr, XP_047295803.1:p.Pro1354Ala, XP_047295803.1:p.Pro1354Thr, XP_047295804.1:p.Pro1340Ala, XP_047295804.1:p.Pro1340Thr

Select item 147920341818.

rs1479203418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:42102237 (GRCh38)
20:40730877 (GRCh37)
Canonical SPDI:: NC_000020.11:42102236:G:A
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.42102237G>A, NC_000020.10:g.40730877G>A, NG_033880.2:g.1092681C>T, NM_007050.6:c.3601C>T, NM_007050.5:c.3601C>T, NM_133170.4:c.3658C>T, NM_133170.3:c.3658C>T, NM_001394024.1:c.3658C>T, NM_001394025.1:c.3625C>T, NM_001394026.1:c.3598C>T, XM_017027611.2:c.3646C>T, XM_017027611.1:c.3646C>T, XM_017027612.2:c.3643C>T, XM_017027612.1:c.3643C>T, XM_017027613.2:c.3586C>T, XM_017027613.1:c.3586C>T, XM_047439846.1:c.3643C>T, XM_047439847.1:c.3640C>T, XM_047439848.1:c.3598C>T, NP_008981.4:p.Arg1201Trp, NP_573400.3:p.Arg1220Trp, NP_001380953.1:p.Arg1220Trp, NP_001380954.1:p.Arg1209Trp, NP_001380955.1:p.Arg1200Trp, XP_016883100.1:p.Arg1216Trp, XP_016883101.1:p.Arg1215Trp, XP_016883102.1:p.Arg1196Trp, XP_047295802.1:p.Arg1215Trp, XP_047295803.1:p.Arg1214Trp, XP_047295804.1:p.Arg1200Trp

Select item 147902987919.

rs1479029879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:42771527 (GRCh38)
20:41400167 (GRCh37)
Canonical SPDI:: NC_000020.11:42771526:G:C
Gene:: PTPRT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.42771527G>C, NC_000020.10:g.41400167G>C, NG_033880.2:g.423391C>G, NM_007050.6:c.592C>G, NM_007050.5:c.592C>G, NM_133170.4:c.592C>G, NM_133170.3:c.592C>G, NM_001394024.1:c.592C>G, NM_001394025.1:c.592C>G, NM_001394026.1:c.592C>G, XM_017027611.2:c.607C>G, XM_017027611.1:c.607C>G, XM_017027612.2:c.607C>G, XM_017027612.1:c.607C>G, XM_017027613.2:c.607C>G, XM_017027613.1:c.607C>G, XM_047439846.1:c.607C>G, XM_047439847.1:c.607C>G, XM_047439848.1:c.592C>G, NP_008981.4:p.Leu198Val, NP_573400.3:p.Leu198Val, NP_001380953.1:p.Leu198Val, NP_001380954.1:p.Leu198Val, NP_001380955.1:p.Leu198Val, XP_016883100.1:p.Leu203Val, XP_016883101.1:p.Leu203Val, XP_016883102.1:p.Leu203Val, XP_047295802.1:p.Leu203Val, XP_047295803.1:p.Leu203Val, XP_047295804.1:p.Leu198Val

Select item 147858338720.

rs1478583387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:42102279 (GRCh38)
20:40730919 (GRCh37)
Canonical SPDI:: NC_000020.11:42102278:G:A,NC_000020.11:42102278:G:T
Gene:: PTPRT (Varview), LOC101927182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.42102279G>A, NC_000020.11:g.42102279G>T, NC_000020.10:g.40730919G>A, NC_000020.10:g.40730919G>T, NG_033880.2:g.1092639C>T, NG_033880.2:g.1092639C>A, NM_007050.6:c.3559C>T, NM_007050.6:c.3559C>A, NM_007050.5:c.3559C>T, NM_007050.5:c.3559C>A, NM_133170.4:c.3616C>T, NM_133170.4:c.3616C>A, NM_133170.3:c.3616C>T, NM_133170.3:c.3616C>A, NM_001394024.1:c.3616C>T, NM_001394024.1:c.3616C>A, NM_001394025.1:c.3583C>T, NM_001394025.1:c.3583C>A, NM_001394026.1:c.3556C>T, NM_001394026.1:c.3556C>A, XM_017027611.2:c.3604C>T, XM_017027611.2:c.3604C>A, XM_017027611.1:c.3604C>T, XM_017027611.1:c.3604C>A, XM_017027612.2:c.3601C>T, XM_017027612.2:c.3601C>A, XM_017027612.1:c.3601C>T, XM_017027612.1:c.3601C>A, XM_017027613.2:c.3544C>T, XM_017027613.2:c.3544C>A, XM_017027613.1:c.3544C>T, XM_017027613.1:c.3544C>A, XM_047439846.1:c.3601C>T, XM_047439846.1:c.3601C>A, XM_047439847.1:c.3598C>T, XM_047439847.1:c.3598C>A, XM_047439848.1:c.3556C>T, XM_047439848.1:c.3556C>A, NP_008981.4:p.Pro1187Ser, NP_008981.4:p.Pro1187Thr, NP_573400.3:p.Pro1206Ser, NP_573400.3:p.Pro1206Thr, NP_001380953.1:p.Pro1206Ser, NP_001380953.1:p.Pro1206Thr, NP_001380954.1:p.Pro1195Ser, NP_001380954.1:p.Pro1195Thr, NP_001380955.1:p.Pro1186Ser, NP_001380955.1:p.Pro1186Thr, XP_016883100.1:p.Pro1202Ser, XP_016883100.1:p.Pro1202Thr, XP_016883101.1:p.Pro1201Ser, XP_016883101.1:p.Pro1201Thr, XP_016883102.1:p.Pro1182Ser, XP_016883102.1:p.Pro1182Thr, XP_047295802.1:p.Pro1201Ser, XP_047295802.1:p.Pro1201Thr, XP_047295803.1:p.Pro1200Ser, XP_047295803.1:p.Pro1200Thr, XP_047295804.1:p.Pro1186Ser, XP_047295804.1:p.Pro1186Thr

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