SNP Links for Protein (Select 50428935) - SNP

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17726104 (GRCh38)
19:17836913 (GRCh37)
Canonical SPDI:: NC_000019.10:17726103:G:T
Gene:: MAP1S (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17726104G>T, NC_000019.9:g.17836913G>T, NM_018174.6:c.720G>T, NM_018174.5:c.720G>T, NM_018174.4:c.720G>T, NM_001308363.2:c.642G>T, NM_001308363.1:c.642G>T

Select item 14863298517.

rs1486329851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:17726169 (GRCh38)
19:17836978 (GRCh37)
Canonical SPDI:: NC_000019.10:17726168:C:A,NC_000019.10:17726168:C:T
Gene:: MAP1S (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.17726169C>A, NC_000019.10:g.17726169C>T, NC_000019.9:g.17836978C>A, NC_000019.9:g.17836978C>T, NM_018174.6:c.785C>A, NM_018174.6:c.785C>T, NM_018174.5:c.785C>A, NM_018174.5:c.785C>T, NM_018174.4:c.785C>A, NM_018174.4:c.785C>T, NM_001308363.2:c.707C>A, NM_001308363.2:c.707C>T, NM_001308363.1:c.707C>A, NM_001308363.1:c.707C>T, NP_060644.4:p.Thr262Asn, NP_060644.4:p.Thr262Ile, NP_001295292.1:p.Thr236Asn, NP_001295292.1:p.Thr236Ile

Select item 14861578448.

rs1486157844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17727007 (GRCh38)
19:17837816 (GRCh37)
Canonical SPDI:: NC_000019.10:17727006:G:A
Gene:: MAP1S (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17727007G>A, NC_000019.9:g.17837816G>A, NM_018174.6:c.1623G>A, NM_018174.5:c.1623G>A, NM_018174.4:c.1623G>A, NM_001308363.2:c.1545G>A, NM_001308363.1:c.1545G>A

Select item 14850576289.

rs1485057628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17726101 (GRCh38)
19:17836910 (GRCh37)
Canonical SPDI:: NC_000019.10:17726100:C:T
Gene:: MAP1S (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17726101C>T, NC_000019.9:g.17836910C>T, NM_018174.6:c.717C>T, NM_018174.5:c.717C>T, NM_018174.4:c.717C>T, NM_001308363.2:c.639C>T, NM_001308363.1:c.639C>T

Select item 148431785710.

rs1484317857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:17733234 (GRCh38)
19:17844043 (GRCh37)
Canonical SPDI:: NC_000019.10:17733233:A:C
Gene:: MAP1S (Varview), LOC124904649 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17733234A>C, NC_000019.9:g.17844043A>C, NM_018174.6:c.2830A>C, NM_018174.5:c.2830A>C, NM_018174.4:c.2830A>C, NM_001308363.2:c.2752A>C, NM_001308363.1:c.2752A>C, NP_060644.4:p.Lys944Gln, NP_001295292.1:p.Lys918Gln

Select item 148419246811.

rs1484192468 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACGAA>- [Show Flanks]
Chromosome:: 19:17727043 (GRCh38)
19:17837852 (GRCh37)
Canonical SPDI:: NC_000019.10:17727039:GAAGACGAA:GAA
Gene:: MAP1S (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17727043_17727048del, NC_000019.9:g.17837852_17837857del, NM_018174.6:c.1659_1664del, NM_018174.5:c.1659_1664del, NM_018174.4:c.1659_1664del, NM_001308363.2:c.1581_1586del, NM_001308363.1:c.1581_1586del, NP_060644.4:p.Lys553_Thr554del, NP_001295292.1:p.Lys527_Thr528del

Select item 148262887312.

rs1482628873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17733419 (GRCh38)
19:17844228 (GRCh37)
Canonical SPDI:: NC_000019.10:17733418:T:C
Gene:: MAP1S (Varview), LOC124904649 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17733419T>C, NC_000019.9:g.17844228T>C, NM_018174.6:c.3015T>C, NM_018174.5:c.3015T>C, NM_018174.4:c.3015T>C, NM_001308363.2:c.2937T>C, NM_001308363.1:c.2937T>C, XR_007067151.1:n.853A>G, XR_007067152.1:n.761A>G

Select item 148231956813.

rs1482319568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17733241 (GRCh38)
19:17844050 (GRCh37)
Canonical SPDI:: NC_000019.10:17733240:C:T
Gene:: MAP1S (Varview), LOC124904649 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17733241C>T, NC_000019.9:g.17844050C>T, NM_018174.6:c.2837C>T, NM_018174.5:c.2837C>T, NM_018174.4:c.2837C>T, NM_001308363.2:c.2759C>T, NM_001308363.1:c.2759C>T, NP_060644.4:p.Pro946Leu, NP_001295292.1:p.Pro920Leu

Select item 148106972814.

rs1481069728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17727082 (GRCh38)
19:17837891 (GRCh37)
Canonical SPDI:: NC_000019.10:17727081:C:T
Gene:: MAP1S (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17727082C>T, NC_000019.9:g.17837891C>T, NM_018174.6:c.1698C>T, NM_018174.5:c.1698C>T, NM_018174.4:c.1698C>T, NM_001308363.2:c.1620C>T, NM_001308363.1:c.1620C>T

Select item 148101897215.

rs1481018972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17727467 (GRCh38)
19:17838276 (GRCh37)
Canonical SPDI:: NC_000019.10:17727466:G:A
Gene:: MAP1S (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17727467G>A, NC_000019.9:g.17838276G>A, NM_018174.6:c.2083G>A, NM_018174.5:c.2083G>A, NM_018174.4:c.2083G>A, NM_001308363.2:c.2005G>A, NM_001308363.1:c.2005G>A, NP_060644.4:p.Asp695Asn, NP_001295292.1:p.Asp669Asn

Select item 148079489816.

rs1480794898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17726779 (GRCh38)
19:17837588 (GRCh37)
Canonical SPDI:: NC_000019.10:17726778:G:A
Gene:: MAP1S (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.17726779G>A, NC_000019.9:g.17837588G>A, NM_018174.6:c.1395G>A, NM_018174.5:c.1395G>A, NM_018174.4:c.1395G>A, NM_001308363.2:c.1317G>A, NM_001308363.1:c.1317G>A