Canonical Allele Identifier: CA1883392970

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835027G= , CM000671.2:g.134835027G=	GRCh38
NC_000009.11:g.137726873G= , CM000671.1:g.137726873G=	GRCh37
NC_000009.10:g.136866694G=	NCBI36
NG_008030.1:g.198222G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5193G=	ENSP00000360885.4:p.Leu1731=
ENST00000371817.8:c.5193G= MANE Select	ENSP00000360882.3:p.Leu1731=
ENST00000371817.7:c.5193G=	ENSP00000360882.3:p.Leu1731=
ENST00000371820.3:c.451G=
ENST00000618395.4:c.5193G=	ENSP00000481360.1:p.Leu1731=
NM_000093.4:c.5193G=	NP_000084.3:p.Leu1731=
NM_001278074.1:c.5193G=	NP_001265003.1:p.Leu1731=
NR_103451.2:n.71-14818C=
XR_929712.1:n.5877G=
XR_929713.1:n.5745G=
NM_000093.5:c.5193G= MANE Select	NP_000084.3:p.Leu1731=