Canonical Allele Identifier: CA467652862

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137582777G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690931G>T , CM000671.2:g.134690931G>T	GRCh38
NC_000009.11:g.137582777G>T , CM000671.1:g.137582777G>T	GRCh37
NC_000009.10:g.136722598G>T	NCBI36
NG_008030.1:g.54126G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.129G>T	ENSP00000360885.4:p.Leu43=
ENST00000371817.8:c.129G>T MANE Select	ENSP00000360882.3:p.Leu43=
ENST00000371817.7:c.129G>T	ENSP00000360882.3:p.Leu43=
ENST00000464187.1:n.315G>T
ENST00000618395.4:c.129G>T	ENSP00000481360.1:p.Leu43=
NM_000093.4:c.129G>T	NP_000084.3:p.Leu43=
NM_001278074.1:c.129G>T	NP_001265003.1:p.Leu43=
XR_929712.1:n.531G>T
XR_929713.1:n.531G>T
XM_017014266.2:c.129G>T	XP_016869755.1:p.Leu43=
XR_001746183.1:n.527G>T
NM_000093.5:c.129G>T MANE Select	NP_000084.3:p.Leu43=