Canonical Allele Identifier: CA9316245
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 889494
dbSNP Id: rs144170209

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784916C>T , CM000681.2:g.18784916C>T GRCh38
NC_000019.9:g.18895726C>T , CM000681.1:g.18895726C>T GRCh37
NC_000019.8:g.18756726C>T NCBI36
NG_007070.1:g.11389G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1894G>A MANE Select ENSP00000222271.2:p.Glu632Lys
ENST00000222271.6:c.1894G>A ENSP00000222271.2:p.Glu632Lys
ENST00000425807.1:c.1735G>A ENSP00000403792.1:p.Glu579Lys
ENST00000542601.6:c.1795G>A ENSP00000439156.2:p.Glu599Lys
NM_000095.2:c.1894G>A NP_000086.2:p.Glu632Lys
NM_000095.3:c.1894G>A MANE Select NP_000086.2:p.Glu632Lys