Canonical Allele Identifier: CA5319937

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134811383A>G , CM000671.2:g.134811383A>G	GRCh38
NC_000009.11:g.137703229A>G , CM000671.1:g.137703229A>G	GRCh37
NC_000009.10:g.136843050A>G	NCBI36
NG_008030.1:g.174578A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.3573A>G MANE Select	NP_000084.3:p.Pro1191=
ENST00000371817.8:c.3573A>G MANE Select	ENSP00000360882.3:p.Pro1191=
NM_000093.4:c.3573A>G	NP_000084.3:p.Pro1191=
NM_001278074.1:c.3573A>G	NP_001265003.1:p.Pro1191=
ENST00000371817.7:c.3573A>G	ENSP00000360882.3:p.Pro1191=
ENST00000371820.4:c.3573A>G	ENSP00000360885.4:p.Pro1191=
ENST00000618395.4:c.3573A>G	ENSP00000481360.1:p.Pro1191=
XM_017014266.2:c.3573A>G	XP_016869755.1:p.Pro1191=
XR_001746183.1:n.3971A>G
XR_929712.1:n.3975A>G
XR_929713.1:n.3975A>G