SNP Links for Protein (Select 224591430) - SNP

Links from Protein

Items: 1 to 20 of 398

<< First< Prev

Page of 20

Next >Last >>

Select item 14892120841.

rs1489212084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:4274546 (GRCh38)
4:4276273 (GRCh37)
Canonical SPDI:: NC_000004.12:4274545:T:C,NC_000004.12:4274545:T:G
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.4274546T>C, NC_000004.12:g.4274546T>G, NC_000004.11:g.4276273T>C, NC_000004.11:g.4276273T>G, XM_011513506.4:c.653A>G, XM_011513506.4:c.653A>C, XM_011513506.3:c.653A>G, XM_011513506.3:c.653A>C, XM_011513506.2:c.653A>G, XM_011513506.2:c.653A>C, XM_011513506.1:c.653A>G, XM_011513506.1:c.653A>C, NM_017816.3:c.653A>G, NM_017816.3:c.653A>C, NM_017816.2:c.653A>G, NM_017816.2:c.653A>C, XM_011513505.2:c.653A>G, XM_011513505.2:c.653A>C, XM_011513505.1:c.653A>G, XM_011513505.1:c.653A>C, NM_001145725.2:c.653A>G, NM_001145725.2:c.653A>C, NM_001145725.1:c.653A>G, NM_001145725.1:c.653A>C, XP_011511808.1:p.Gln218Arg, XP_011511808.1:p.Gln218Pro, NP_060286.1:p.Gln218Arg, NP_060286.1:p.Gln218Pro, XP_011511807.1:p.Gln218Arg, XP_011511807.1:p.Gln218Pro, NP_001139197.1:p.Gln218Arg, NP_001139197.1:p.Gln218Pro

Select item 14877452082.

rs1487745208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:4273598 (GRCh38)
4:4275325 (GRCh37)
Canonical SPDI:: NC_000004.12:4273597:C:T
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.4273598C>T, NC_000004.11:g.4275325C>T, XM_011513506.4:c.904G>A, XM_011513506.3:c.904G>A, XM_011513506.2:c.904G>A, XM_011513506.1:c.904G>A, NM_017816.3:c.904G>A, NM_017816.2:c.904G>A, XM_011513505.2:c.904G>A, XM_011513505.1:c.904G>A, NM_001145725.2:c.904G>A, NM_001145725.1:c.904G>A, XP_011511808.1:p.Glu302Lys, NP_060286.1:p.Glu302Lys, XP_011511807.1:p.Glu302Lys, NP_001139197.1:p.Glu302Lys

Select item 14853453513.

rs1485345351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4274519 (GRCh38)
4:4276246 (GRCh37)
Canonical SPDI:: NC_000004.12:4274518:T:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4274519T>C, NC_000004.11:g.4276246T>C, XM_011513506.4:c.680A>G, XM_011513506.3:c.680A>G, XM_011513506.2:c.680A>G, XM_011513506.1:c.680A>G, NM_017816.3:c.680A>G, NM_017816.2:c.680A>G, XM_011513505.2:c.680A>G, XM_011513505.1:c.680A>G, NM_001145725.2:c.680A>G, NM_001145725.1:c.680A>G, XP_011511808.1:p.Gln227Arg, NP_060286.1:p.Gln227Arg, XP_011511807.1:p.Gln227Arg, NP_001139197.1:p.Gln227Arg

Select item 14828896404.

rs1482889640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:4268586 (GRCh38)
4:4270313 (GRCh37)
Canonical SPDI:: NC_000004.12:4268585:C:T
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.4268586C>T, NC_000004.11:g.4270313C>T, XM_011513506.4:c.949G>A, XM_011513506.3:c.949G>A, XM_011513506.2:c.949G>A, XM_011513506.1:c.949G>A, NM_017816.3:c.949G>A, NM_017816.2:c.949G>A, XM_011513505.2:c.949G>A, XM_011513505.1:c.949G>A, NM_001145725.2:c.949G>A, NM_001145725.1:c.949G>A, XP_011511808.1:p.Ala317Thr, NP_060286.1:p.Ala317Thr, XP_011511807.1:p.Ala317Thr, NP_001139197.1:p.Ala317Thr

Select item 14804234555.

rs1480423455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4268550 (GRCh38)
4:4270277 (GRCh37)
Canonical SPDI:: NC_000004.12:4268549:T:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4268550T>C, NC_000004.11:g.4270277T>C, XM_011513506.4:c.985A>G, XM_011513506.3:c.985A>G, XM_011513506.2:c.985A>G, XM_011513506.1:c.985A>G, NM_017816.3:c.985A>G, NM_017816.2:c.985A>G, XM_011513505.2:c.985A>G, XM_011513505.1:c.985A>G, NM_001145725.2:c.985A>G, NM_001145725.1:c.985A>G, XP_011511808.1:p.Ile329Val, NP_060286.1:p.Ile329Val, XP_011511807.1:p.Ile329Val, NP_001139197.1:p.Ile329Val

Select item 14745353286.

rs1474535328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4274501 (GRCh38)
4:4276228 (GRCh37)
Canonical SPDI:: NC_000004.12:4274500:G:A
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4274501G>A, NC_000004.11:g.4276228G>A, XM_011513506.4:c.698C>T, XM_011513506.3:c.698C>T, XM_011513506.2:c.698C>T, XM_011513506.1:c.698C>T, NM_017816.3:c.698C>T, NM_017816.2:c.698C>T, XM_011513505.2:c.698C>T, XM_011513505.1:c.698C>T, NM_001145725.2:c.698C>T, NM_001145725.1:c.698C>T, XP_011511808.1:p.Ala233Val, NP_060286.1:p.Ala233Val, XP_011511807.1:p.Ala233Val, NP_001139197.1:p.Ala233Val

Select item 14668610297.

rs1466861029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:4267901 (GRCh38)
4:4269628 (GRCh37)
Canonical SPDI:: NC_000004.12:4267900:C:A,NC_000004.12:4267900:C:G,NC_000004.12:4267900:C:T
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000004.12:g.4267901C>A, NC_000004.12:g.4267901C>G, NC_000004.12:g.4267901C>T, NC_000004.11:g.4269628C>A, NC_000004.11:g.4269628C>G, NC_000004.11:g.4269628C>T, XM_011513506.4:c.1128G>T, XM_011513506.4:c.1128G>C, XM_011513506.4:c.1128G>A, XM_011513506.3:c.1128G>T, XM_011513506.3:c.1128G>C, XM_011513506.3:c.1128G>A, XM_011513506.2:c.1128G>T, XM_011513506.2:c.1128G>C, XM_011513506.2:c.1128G>A, XM_011513506.1:c.1128G>T, XM_011513506.1:c.1128G>C, XM_011513506.1:c.1128G>A, NM_017816.3:c.1128G>T, NM_017816.3:c.1128G>C, NM_017816.3:c.1128G>A, NM_017816.2:c.1128G>T, NM_017816.2:c.1128G>C, NM_017816.2:c.1128G>A, XM_011513505.2:c.1128G>T, XM_011513505.2:c.1128G>C, XM_011513505.2:c.1128G>A, XM_011513505.1:c.1128G>T, XM_011513505.1:c.1128G>C, XM_011513505.1:c.1128G>A, NM_001145725.2:c.1128G>T, NM_001145725.2:c.1128G>C, NM_001145725.2:c.1128G>A, NM_001145725.1:c.1128G>T, NM_001145725.1:c.1128G>C, NM_001145725.1:c.1128G>A, XP_011511808.1:p.Lys376Asn, XP_011511808.1:p.Lys376Asn, NP_060286.1:p.Lys376Asn, NP_060286.1:p.Lys376Asn, XP_011511807.1:p.Lys376Asn, XP_011511807.1:p.Lys376Asn, NP_001139197.1:p.Lys376Asn, NP_001139197.1:p.Lys376Asn

Select item 14661596718.

rs1466159671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4281886 (GRCh38)
4:4283613 (GRCh37)
Canonical SPDI:: NC_000004.12:4281885:T:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.4281886T>C, NC_000004.11:g.4283613T>C, XM_011513506.4:c.134A>G, XM_011513506.3:c.134A>G, XM_011513506.2:c.134A>G, XM_011513506.1:c.134A>G, NM_017816.3:c.134A>G, NM_017816.2:c.134A>G, XM_011513505.2:c.134A>G, XM_011513505.1:c.134A>G, NM_001145725.2:c.134A>G, NM_001145725.1:c.134A>G, XP_011511808.1:p.Tyr45Cys, NP_060286.1:p.Tyr45Cys, XP_011511807.1:p.Tyr45Cys, NP_001139197.1:p.Tyr45Cys

Select item 14648496499.

rs1464849649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:4274765 (GRCh38)
4:4276492 (GRCh37)
Canonical SPDI:: NC_000004.12:4274764:G:A,NC_000004.12:4274764:G:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000004.12:g.4274765G>A, NC_000004.12:g.4274765G>C, NC_000004.11:g.4276492G>A, NC_000004.11:g.4276492G>C, XM_011513506.4:c.434C>T, XM_011513506.4:c.434C>G, XM_011513506.3:c.434C>T, XM_011513506.3:c.434C>G, XM_011513506.2:c.434C>T, XM_011513506.2:c.434C>G, XM_011513506.1:c.434C>T, XM_011513506.1:c.434C>G, NM_017816.3:c.434C>T, NM_017816.3:c.434C>G, NM_017816.2:c.434C>T, NM_017816.2:c.434C>G, XM_011513505.2:c.434C>T, XM_011513505.2:c.434C>G, XM_011513505.1:c.434C>T, XM_011513505.1:c.434C>G, NM_001145725.2:c.434C>T, NM_001145725.2:c.434C>G, NM_001145725.1:c.434C>T, NM_001145725.1:c.434C>G, XP_011511808.1:p.Pro145Leu, XP_011511808.1:p.Pro145Arg, NP_060286.1:p.Pro145Leu, NP_060286.1:p.Pro145Arg, XP_011511807.1:p.Pro145Leu, XP_011511807.1:p.Pro145Arg, NP_001139197.1:p.Pro145Leu, NP_001139197.1:p.Pro145Arg

Select item 146424286710.

rs1464242867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:4274487 (GRCh38)
4:4276214 (GRCh37)
Canonical SPDI:: NC_000004.12:4274486:C:T
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.4274487C>T, NC_000004.11:g.4276214C>T, XM_011513506.4:c.712G>A, XM_011513506.3:c.712G>A, XM_011513506.2:c.712G>A, XM_011513506.1:c.712G>A, NM_017816.3:c.712G>A, NM_017816.2:c.712G>A, XM_011513505.2:c.712G>A, XM_011513505.1:c.712G>A, NM_001145725.2:c.712G>A, NM_001145725.1:c.712G>A, XP_011511808.1:p.Val238Ile, NP_060286.1:p.Val238Ile, XP_011511807.1:p.Val238Ile, NP_001139197.1:p.Val238Ile

Select item 146419390811.

rs1464193908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:4268002 (GRCh38)
4:4269729 (GRCh37)
Canonical SPDI:: NC_000004.12:4268001:C:T
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.4268002C>T, NC_000004.11:g.4269729C>T, XM_011513506.4:c.1027G>A, XM_011513506.3:c.1027G>A, XM_011513506.2:c.1027G>A, XM_011513506.1:c.1027G>A, NM_017816.3:c.1027G>A, NM_017816.2:c.1027G>A, XM_011513505.2:c.1027G>A, XM_011513505.1:c.1027G>A, NM_001145725.2:c.1027G>A, NM_001145725.1:c.1027G>A, XP_011511808.1:p.Val343Met, NP_060286.1:p.Val343Met, XP_011511807.1:p.Val343Met, NP_001139197.1:p.Val343Met

Select item 145761501012.

rs1457615010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4274567 (GRCh38)
4:4276294 (GRCh37)
Canonical SPDI:: NC_000004.12:4274566:T:C
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.4274567T>C, NC_000004.11:g.4276294T>C, XM_011513506.4:c.632A>G, XM_011513506.3:c.632A>G, XM_011513506.2:c.632A>G, XM_011513506.1:c.632A>G, NM_017816.3:c.632A>G, NM_017816.2:c.632A>G, XM_011513505.2:c.632A>G, XM_011513505.1:c.632A>G, NM_001145725.2:c.632A>G, NM_001145725.1:c.632A>G, XP_011511808.1:p.His211Arg, NP_060286.1:p.His211Arg, XP_011511807.1:p.His211Arg, NP_001139197.1:p.His211Arg

Select item 145701250013.

rs1457012500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:4274463 (GRCh38)
4:4276190 (GRCh37)
Canonical SPDI:: NC_000004.12:4274462:C:T
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000004.12:g.4274463C>T, NC_000004.11:g.4276190C>T, XM_011513506.4:c.736G>A, XM_011513506.3:c.736G>A, XM_011513506.2:c.736G>A, XM_011513506.1:c.736G>A, NM_017816.3:c.736G>A, NM_017816.2:c.736G>A, XM_011513505.2:c.736G>A, XM_011513505.1:c.736G>A, NM_001145725.2:c.736G>A, NM_001145725.1:c.736G>A, XP_011511808.1:p.Gly246Arg, NP_060286.1:p.Gly246Arg, XP_011511807.1:p.Gly246Arg, NP_001139197.1:p.Gly246Arg

Select item 145696912514.

rs1456969125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:4267969 (GRCh38)
4:4269696 (GRCh37)
Canonical SPDI:: NC_000004.12:4267968:G:A,NC_000004.12:4267968:G:T
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.4267969G>A, NC_000004.12:g.4267969G>T, NC_000004.11:g.4269696G>A, NC_000004.11:g.4269696G>T, XM_011513506.4:c.1060C>T, XM_011513506.4:c.1060C>A, XM_011513506.3:c.1060C>T, XM_011513506.3:c.1060C>A, XM_011513506.2:c.1060C>T, XM_011513506.2:c.1060C>A, XM_011513506.1:c.1060C>T, XM_011513506.1:c.1060C>A, NM_017816.3:c.1060C>T, NM_017816.3:c.1060C>A, NM_017816.2:c.1060C>T, NM_017816.2:c.1060C>A, XM_011513505.2:c.1060C>T, XM_011513505.2:c.1060C>A, XM_011513505.1:c.1060C>T, XM_011513505.1:c.1060C>A, NM_001145725.2:c.1060C>T, NM_001145725.2:c.1060C>A, NM_001145725.1:c.1060C>T, NM_001145725.1:c.1060C>A, XP_011511808.1:p.Leu354Phe, XP_011511808.1:p.Leu354Ile, NP_060286.1:p.Leu354Phe, NP_060286.1:p.Leu354Ile, XP_011511807.1:p.Leu354Phe, XP_011511807.1:p.Leu354Ile, NP_001139197.1:p.Leu354Phe, NP_001139197.1:p.Leu354Ile

Select item 145445621415.

rs1454456214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:4267980 (GRCh38)
4:4269707 (GRCh37)
Canonical SPDI:: NC_000004.12:4267979:G:A,NC_000004.12:4267979:G:T
Gene:: LYAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.4267980G>A, NC_000004.12:g.4267980G>T, NC_000004.11:g.4269707G>A, NC_000004.11:g.4269707G>T, XM_011513506.4:c.1049C>T, XM_011513506.4:c.1049C>A, XM_011513506.3:c.1049C>T, XM_011513506.3:c.1049C>A, XM_011513506.2:c.1049C>T, XM_011513506.2:c.1049C>A, XM_011513506.1:c.1049C>T, XM_011513506.1:c.1049C>A, NM_017816.3:c.1049C>T, NM_017816.3:c.1049C>A, NM_017816.2:c.1049C>T, NM_017816.2:c.1049C>A, XM_011513505.2:c.1049C>T, XM_011513505.2:c.1049C>A, XM_011513505.1:c.1049C>T, XM_011513505.1:c.1049C>A, NM_001145725.2:c.1049C>T, NM_001145725.2:c.1049C>A, NM_001145725.1:c.1049C>T, NM_001145725.1:c.1049C>A, XP_011511808.1:p.Ser350Phe, XP_011511808.1:p.Ser350Tyr, NP_060286.1:p.Ser350Phe, NP_060286.1:p.Ser350Tyr, XP_011511807.1:p.Ser350Phe, XP_011511807.1:p.Ser350Tyr, NP_001139197.1:p.Ser350Phe, NP_001139197.1:p.Ser350Tyr

Select item 145362680116.

rs1453626801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:4274652 (GRCh38)
4:4276379 (GRCh37)
Canonical SPDI:: NC_000004.12:4274651:C:A
Gene:: LYAR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4274652C>A, NC_000004.11:g.4276379C>A, XM_011513506.4:c.547G>T, XM_011513506.3:c.547G>T, XM_011513506.2:c.547G>T, XM_011513506.1:c.547G>T, NM_017816.3:c.547G>T, NM_017816.2:c.547G>T, XM_011513505.2:c.547G>T, XM_011513505.1:c.547G>T, NM_001145725.2:c.547G>T, NM_001145725.1:c.547G>T, XP_011511808.1:p.Glu183Ter, NP_060286.1:p.Glu183Ter, XP_011511807.1:p.Glu183Ter, NP_001139197.1:p.Glu183Ter

Select item 145203239217.

rs1452032392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:4274468 (GRCh38)
4:4276195 (GRCh37)
Canonical SPDI:: NC_000004.12:4274467:G:A,NC_000004.12:4274467:G:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.4274468G>A, NC_000004.12:g.4274468G>C, NC_000004.11:g.4276195G>A, NC_000004.11:g.4276195G>C, XM_011513506.4:c.731C>T, XM_011513506.4:c.731C>G, XM_011513506.3:c.731C>T, XM_011513506.3:c.731C>G, XM_011513506.2:c.731C>T, XM_011513506.2:c.731C>G, XM_011513506.1:c.731C>T, XM_011513506.1:c.731C>G, NM_017816.3:c.731C>T, NM_017816.3:c.731C>G, NM_017816.2:c.731C>T, NM_017816.2:c.731C>G, XM_011513505.2:c.731C>T, XM_011513505.2:c.731C>G, XM_011513505.1:c.731C>T, XM_011513505.1:c.731C>G, NM_001145725.2:c.731C>T, NM_001145725.2:c.731C>G, NM_001145725.1:c.731C>T, NM_001145725.1:c.731C>G, XP_011511808.1:p.Ser244Phe, XP_011511808.1:p.Ser244Cys, NP_060286.1:p.Ser244Phe, NP_060286.1:p.Ser244Cys, XP_011511807.1:p.Ser244Phe, XP_011511807.1:p.Ser244Cys, NP_001139197.1:p.Ser244Phe, NP_001139197.1:p.Ser244Cys

Select item 145092281618.

rs1450922816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:4281854 (GRCh38)
4:4283581 (GRCh37)
Canonical SPDI:: NC_000004.12:4281853:G:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4281854G>C, NC_000004.11:g.4283581G>C, XM_011513506.4:c.166C>G, XM_011513506.3:c.166C>G, XM_011513506.2:c.166C>G, XM_011513506.1:c.166C>G, NM_017816.3:c.166C>G, NM_017816.2:c.166C>G, XM_011513505.2:c.166C>G, XM_011513505.1:c.166C>G, NM_001145725.2:c.166C>G, NM_001145725.1:c.166C>G, XP_011511808.1:p.Gln56Glu, NP_060286.1:p.Gln56Glu, XP_011511807.1:p.Gln56Glu, NP_001139197.1:p.Gln56Glu

Select item 144556633719.

rs1445566337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4274433 (GRCh38)
4:4276160 (GRCh37)
Canonical SPDI:: NC_000004.12:4274432:T:C
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4274433T>C, NC_000004.11:g.4276160T>C, XM_011513506.4:c.766A>G, XM_011513506.3:c.766A>G, XM_011513506.2:c.766A>G, XM_011513506.1:c.766A>G, NM_017816.3:c.766A>G, NM_017816.2:c.766A>G, XM_011513505.2:c.766A>G, XM_011513505.1:c.766A>G, NM_001145725.2:c.766A>G, NM_001145725.1:c.766A>G, XP_011511808.1:p.Lys256Glu, NP_060286.1:p.Lys256Glu, XP_011511807.1:p.Lys256Glu, NP_001139197.1:p.Lys256Glu

Select item 144461755620.

rs1444617556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4274374 (GRCh38)
4:4276101 (GRCh37)
Canonical SPDI:: NC_000004.12:4274373:G:A
Gene:: LYAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4274374G>A, NC_000004.11:g.4276101G>A, XM_011513506.4:c.825C>T, XM_011513506.3:c.825C>T, XM_011513506.2:c.825C>T, XM_011513506.1:c.825C>T, NM_017816.3:c.825C>T, NM_017816.2:c.825C>T, XM_011513505.2:c.825C>T, XM_011513505.1:c.825C>T, NM_001145725.2:c.825C>T, NM_001145725.1:c.825C>T

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 398

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity