Canonical Allele Identifier: CA5318287

Gene: COL5A1

Linked Data

• dbSNP Id: rs745981084
• ExAC: 9:137591877 C / T
• gnomAD v2: 9-137591877-C-T
• gnomAD v4: 9-134700031-C-T
• MyVariant Identifiers: chr9:g.137591877C>T (hg19) ; chr9:g.134700031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134700031C>T , CM000671.2:g.134700031C>T	GRCh38
NC_000009.11:g.137591877C>T , CM000671.1:g.137591877C>T	GRCh37
NC_000009.10:g.136731698C>T	NCBI36
NG_008030.1:g.63226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.400C>T	ENSP00000360885.4:p.Arg134Cys
ENST00000371817.8:c.400C>T MANE Select	ENSP00000360882.3:p.Arg134Cys
ENST00000371817.7:c.400C>T	ENSP00000360882.3:p.Arg134Cys
ENST00000464187.1:n.822C>T
ENST00000618395.4:c.400C>T	ENSP00000481360.1:p.Arg134Cys
NM_000093.4:c.400C>T	NP_000084.3:p.Arg134Cys
NM_001278074.1:c.400C>T	NP_001265003.1:p.Arg134Cys
XR_929712.1:n.802C>T
XR_929713.1:n.802C>T
XM_017014266.2:c.400C>T	XP_016869755.1:p.Arg134Cys
XR_001746183.1:n.798C>T
NM_000093.5:c.400C>T MANE Select	NP_000084.3:p.Arg134Cys