Canonical Allele Identifier: CA324593

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 212936
• ClinVar RCV Id: RCV000200041 ; RCV002228841 ; RCV002399718 ; RCV003323438 ; RCV003224216
• dbSNP Id: rs369000939
• ExAC: 9:137642661 C / T
• gnomAD v2: 9-137642661-C-T
• gnomAD v3: 9-134750815-C-T
• gnomAD v4: 9-134750815-C-T
• MyVariant Identifiers: chr9:g.137642661C>T (hg19) ; chr9:g.134750815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750815C>T , CM000671.2:g.134750815C>T	GRCh38
NC_000009.11:g.137642661C>T , CM000671.1:g.137642661C>T	GRCh37
NC_000009.10:g.136782482C>T	NCBI36
NG_008030.1:g.114010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1595C>T	ENSP00000360885.4:p.Ala532Val
ENST00000371817.8:c.1595C>T MANE Select	ENSP00000360882.3:p.Ala532Val
ENST00000371817.7:c.1595C>T	ENSP00000360882.3:p.Ala532Val
ENST00000618395.4:c.1595C>T	ENSP00000481360.1:p.Ala532Val
NM_000093.4:c.1595C>T	NP_000084.3:p.Ala532Val
NM_001278074.1:c.1595C>T	NP_001265003.1:p.Ala532Val
XR_929712.1:n.1997C>T
XR_929713.1:n.1997C>T
XM_017014266.2:c.1595C>T	XP_016869755.1:p.Ala532Val
XR_001746183.1:n.1993C>T
NM_000093.5:c.1595C>T MANE Select	NP_000084.3:p.Ala532Val