Canonical Allele Identifier: CA120170

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18783125C>T , CM000681.2:g.18783125C>T	GRCh38
NC_000019.9:g.18893935C>T , CM000681.1:g.18893935C>T	GRCh37
NC_000019.8:g.18754935C>T	NCBI36
NG_007070.1:g.13180G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000095.3:c.2156G>A MANE Select	NP_000086.2:p.Gly719Asp
ENST00000222271.7:c.2156G>A MANE Select	ENSP00000222271.2:p.Gly719Asp
NM_000095.2:c.2156G>A	NP_000086.2:p.Gly719Asp
ENST00000222271.6:c.2156G>A	ENSP00000222271.2:p.Gly719Asp
ENST00000425807.1:c.1997G>A	ENSP00000403792.1:p.Gly666Asp
ENST00000542601.6:c.2057G>A	ENSP00000439156.2:p.Gly686Asp