Canonical Allele Identifier: CA201086365
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2895178
ClinVar RCV Id: RCV003760245
dbSNP Id: rs893392661
gnomAD v2: 9-137642697-C-T
gnomAD v3: 9-134750851-C-T
gnomAD v4: 9-134750851-C-T
COSMIC: COSM4828271
MyVariant Identifiers: chr9:g.137642697C>T (hg19) chr9:g.134750851C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750851C>T , CM000671.2:g.134750851C>T GRCh38
NC_000009.11:g.137642697C>T , CM000671.1:g.137642697C>T GRCh37
NC_000009.10:g.136782518C>T NCBI36
NG_008030.1:g.114046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1631C>T ENSP00000360885.4:p.Ser544Phe
ENST00000371817.8:c.1631C>T MANE Select ENSP00000360882.3:p.Ser544Phe
ENST00000371817.7:c.1631C>T ENSP00000360882.3:p.Ser544Phe
ENST00000618395.4:c.1631C>T ENSP00000481360.1:p.Ser544Phe
NM_000093.4:c.1631C>T NP_000084.3:p.Ser544Phe
NM_001278074.1:c.1631C>T NP_001265003.1:p.Ser544Phe
XR_929712.1:n.2033C>T
XR_929713.1:n.2033C>T
XM_017014266.2:c.1631C>T XP_016869755.1:p.Ser544Phe
XR_001746183.1:n.2029C>T
NM_000093.5:c.1631C>T MANE Select NP_000084.3:p.Ser544Phe
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