Canonical Allele Identifier: CA404887723

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787500C>A , CM000681.2:g.18787500C>A	GRCh38
NC_000019.9:g.18898309C>A , CM000681.1:g.18898309C>A	GRCh37
NC_000019.8:g.18759309C>A	NCBI36
NG_007070.1:g.8806G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000095.3:c.1126G>T MANE Select	NP_000086.2:p.Asp376Tyr
ENST00000222271.7:c.1126G>T MANE Select	ENSP00000222271.2:p.Asp376Tyr
NM_000095.2:c.1126G>T	NP_000086.2:p.Asp376Tyr
ENST00000222271.6:c.1126G>T	ENSP00000222271.2:p.Asp376Tyr
ENST00000425807.1:c.967G>T	ENSP00000403792.1:p.Asp323Tyr
ENST00000542601.6:c.1027G>T	ENSP00000439156.2:p.Asp343Tyr