Canonical Allele Identifier: CA375443586

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137642404C>T (hg19) ; chr9:g.134750558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750558C>T , CM000671.2:g.134750558C>T	GRCh38
NC_000009.11:g.137642404C>T , CM000671.1:g.137642404C>T	GRCh37
NC_000009.10:g.136782225C>T	NCBI36
NG_008030.1:g.113753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1511C>T	ENSP00000360885.4:p.Pro504Leu
ENST00000371817.8:c.1511C>T MANE Select	ENSP00000360882.3:p.Pro504Leu
ENST00000371817.7:c.1511C>T	ENSP00000360882.3:p.Pro504Leu
ENST00000618395.4:c.1511C>T	ENSP00000481360.1:p.Pro504Leu
NM_000093.4:c.1511C>T	NP_000084.3:p.Pro504Leu
NM_001278074.1:c.1511C>T	NP_001265003.1:p.Pro504Leu
XR_929712.1:n.1913C>T
XR_929713.1:n.1913C>T
XM_017014266.2:c.1511C>T	XP_016869755.1:p.Pro504Leu
XR_001746183.1:n.1909C>T
NM_000093.5:c.1511C>T MANE Select	NP_000084.3:p.Pro504Leu