Canonical Allele Identifier: CA404886685

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786591C>T , CM000681.2:g.18786591C>T	GRCh38
NC_000019.9:g.18897401C>T , CM000681.1:g.18897401C>T	GRCh37
NC_000019.8:g.18758401C>T	NCBI36
NG_007070.1:g.9714G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000095.3:c.1195G>A MANE Select	NP_000086.2:p.Asp399Asn
ENST00000222271.7:c.1195G>A MANE Select	ENSP00000222271.2:p.Asp399Asn
NM_000095.2:c.1195G>A	NP_000086.2:p.Asp399Asn
ENST00000222271.6:c.1195G>A	ENSP00000222271.2:p.Asp399Asn
ENST00000425807.1:c.1036G>A	ENSP00000403792.1:p.Asp346Asn
ENST00000542601.6:c.1096G>A	ENSP00000439156.2:p.Asp366Asn
ENST00000612179.1:n.445G>A