Canonical Allele Identifier: CA5320697

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1102998
• ClinVar RCV Id: RCV002236014
• dbSNP Id: rs766205598
• ExAC: 9:137727038 G / T
• gnomAD v2: 9-137727038-G-T
• gnomAD v3: 9-134835192-G-T
• gnomAD v4: 9-134835192-G-T
• MyVariant Identifiers: chr9:g.137727038G>T (hg19) ; chr9:g.134835192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835192G>T , CM000671.2:g.134835192G>T	GRCh38
NC_000009.11:g.137727038G>T , CM000671.1:g.137727038G>T	GRCh37
NC_000009.10:g.136866859G>T	NCBI36
NG_008030.1:g.198387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5358G>T	ENSP00000360885.4:p.Val1786=
ENST00000371817.8:c.5358G>T MANE Select	ENSP00000360882.3:p.Val1786=
ENST00000371817.7:c.5358G>T	ENSP00000360882.3:p.Val1786=
ENST00000371820.3:c.616G>T
ENST00000618395.4:c.5358G>T	ENSP00000481360.1:p.Val1786=
NM_000093.4:c.5358G>T	NP_000084.3:p.Val1786=
NM_001278074.1:c.5358G>T	NP_001265003.1:p.Val1786=
NR_103451.2:n.71-14983C>A
NM_000093.5:c.5358G>T MANE Select	NP_000084.3:p.Val1786=