Canonical Allele Identifier: CA290275

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134817038C>T , CM000671.2:g.134817038C>T	GRCh38
NC_000009.11:g.137708884C>T , CM000671.1:g.137708884C>T	GRCh37
NC_000009.10:g.136848705C>T	NCBI36
NG_008030.1:g.180233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4135C>T	ENSP00000360885.4:p.Pro1379Ser
ENST00000371817.8:c.4135C>T MANE Select	ENSP00000360882.3:p.Pro1379Ser
ENST00000371817.7:c.4135C>T	ENSP00000360882.3:p.Pro1379Ser
ENST00000618395.4:c.4135C>T	ENSP00000481360.1:p.Pro1379Ser
NM_000093.4:c.4135C>T	NP_000084.3:p.Pro1379Ser
NM_001278074.1:c.4135C>T	NP_001265003.1:p.Pro1379Ser
XR_929712.1:n.4537C>T
XR_929713.1:n.4537C>T
XM_017014266.2:c.4135C>T	XP_016869755.1:p.Pro1379Ser
XR_001746183.1:n.4533C>T
NM_000093.5:c.4135C>T MANE Select	NP_000084.3:p.Pro1379Ser