Canonical Allele Identifier: CA2326525518

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785998G= , CM000681.2:g.18785998G=	GRCh38
NC_000019.9:g.18896808G= , CM000681.1:g.18896808G=	GRCh37
NC_000019.8:g.18757808G=	NCBI36
NG_007070.1:g.10307C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1456C= MANE Select	ENSP00000222271.2:p.Leu486=
ENST00000222271.6:c.1456C=	ENSP00000222271.2:p.Leu486=
ENST00000425807.1:c.1297C=	ENSP00000403792.1:p.Leu433=
ENST00000542601.6:c.1357C=	ENSP00000439156.2:p.Leu453=
NM_000095.2:c.1456C=	NP_000086.2:p.Leu486=
NM_000095.3:c.1456C= MANE Select	NP_000086.2:p.Leu486=