Canonical Allele Identifier: CA343860

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785056G>C , CM000681.2:g.18785056G>C	GRCh38
NC_000019.9:g.18895866G>C , CM000681.1:g.18895866G>C	GRCh37
NC_000019.8:g.18756866G>C	NCBI36
NG_007070.1:g.11249C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000095.3:c.1754C>G MANE Select	NP_000086.2:p.Thr585Arg
ENST00000222271.7:c.1754C>G MANE Select	ENSP00000222271.2:p.Thr585Arg
NM_000095.2:c.1754C>G	NP_000086.2:p.Thr585Arg
ENST00000222271.6:c.1754C>G	ENSP00000222271.2:p.Thr585Arg
ENST00000425807.1:c.1595C>G	ENSP00000403792.1:p.Thr532Arg
ENST00000542601.6:c.1655C>G	ENSP00000439156.2:p.Thr552Arg