Canonical Allele Identifier: CA375451691

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134806229C>G , CM000671.2:g.134806229C>G	GRCh38
NC_000009.11:g.137698075C>G , CM000671.1:g.137698075C>G	GRCh37
NC_000009.10:g.136837896C>G	NCBI36
NG_008030.1:g.169424C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.3299C>G MANE Select	NP_000084.3:p.Pro1100Arg
ENST00000371817.8:c.3299C>G MANE Select	ENSP00000360882.3:p.Pro1100Arg
NM_000093.4:c.3299C>G	NP_000084.3:p.Pro1100Arg
NM_001278074.1:c.3299C>G	NP_001265003.1:p.Pro1100Arg
ENST00000371817.7:c.3299C>G	ENSP00000360882.3:p.Pro1100Arg
ENST00000371820.4:c.3299C>G	ENSP00000360885.4:p.Pro1100Arg
ENST00000618395.4:c.3299C>G	ENSP00000481360.1:p.Pro1100Arg
XM_017014266.2:c.3299C>G	XP_016869755.1:p.Pro1100Arg
XR_001746183.1:n.3697C>G
XR_929712.1:n.3701C>G
XR_929713.1:n.3701C>G