Canonical Allele Identifier: CA467653349

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2176037
• ClinVar RCV Id: RCV002605892
• gnomAD v4: 9-134750816-G-T
• COSMIC: COSM6039273
• MyVariant Identifiers: chr9:g.137642662G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750816G>T , CM000671.2:g.134750816G>T	GRCh38
NC_000009.11:g.137642662G>T , CM000671.1:g.137642662G>T	GRCh37
NC_000009.10:g.136782483G>T	NCBI36
NG_008030.1:g.114011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1596G>T	ENSP00000360885.4:p.Ala532=
ENST00000371817.8:c.1596G>T MANE Select	ENSP00000360882.3:p.Ala532=
ENST00000371817.7:c.1596G>T	ENSP00000360882.3:p.Ala532=
ENST00000618395.4:c.1596G>T	ENSP00000481360.1:p.Ala532=
NM_000093.4:c.1596G>T	NP_000084.3:p.Ala532=
NM_001278074.1:c.1596G>T	NP_001265003.1:p.Ala532=
XR_929712.1:n.1998G>T
XR_929713.1:n.1998G>T
XM_017014266.2:c.1596G>T	XP_016869755.1:p.Ala532=
XR_001746183.1:n.1994G>T
NM_000093.5:c.1596G>T MANE Select	NP_000084.3:p.Ala532=