Canonical Allele Identifier: CA120166
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9187
ClinVar RCV Id: RCV000009765
dbSNP Id: rs137852652

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787602C>A , CM000681.2:g.18787602C>A GRCh38
NC_000019.9:g.18898411C>A , CM000681.1:g.18898411C>A GRCh37
NC_000019.8:g.18759411C>A NCBI36
NG_007070.1:g.8704G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1024G>T MANE Select ENSP00000222271.2:p.Asp342Tyr
ENST00000222271.6:c.1024G>T ENSP00000222271.2:p.Asp342Tyr
ENST00000425807.1:c.865G>T ENSP00000403792.1:p.Asp289Tyr
ENST00000542601.6:c.925G>T ENSP00000439156.2:p.Asp309Tyr
NM_000095.2:c.1024G>T NP_000086.2:p.Asp342Tyr
NM_000095.3:c.1024G>T MANE Select NP_000086.2:p.Asp342Tyr