Canonical Allele Identifier: CA404888794
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787631C>G , CM000681.2:g.18787631C>G GRCh38
NC_000019.9:g.18898440C>G , CM000681.1:g.18898440C>G GRCh37
NC_000019.8:g.18759440C>G NCBI36
NG_007070.1:g.8675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.995G>C MANE Select ENSP00000222271.2:p.Arg332Pro
ENST00000222271.6:c.995G>C ENSP00000222271.2:p.Arg332Pro
ENST00000425807.1:c.836G>C ENSP00000403792.1:p.Arg279Pro
ENST00000542601.6:c.896G>C ENSP00000439156.2:p.Arg299Pro
NM_000095.2:c.995G>C NP_000086.2:p.Arg332Pro
NM_000095.3:c.995G>C MANE Select NP_000086.2:p.Arg332Pro