Canonical Allele Identifier: CA404879349
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785084C>G , CM000681.2:g.18785084C>G GRCh38
NC_000019.9:g.18895894C>G , CM000681.1:g.18895894C>G GRCh37
NC_000019.8:g.18756894C>G NCBI36
NG_007070.1:g.11221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1726G>C MANE Select ENSP00000222271.2:p.Ala576Pro
ENST00000222271.6:c.1726G>C ENSP00000222271.2:p.Ala576Pro
ENST00000425807.1:c.1567G>C ENSP00000403792.1:p.Ala523Pro
ENST00000542601.6:c.1627G>C ENSP00000439156.2:p.Ala543Pro
NM_000095.2:c.1726G>C NP_000086.2:p.Ala576Pro
NM_000095.3:c.1726G>C MANE Select NP_000086.2:p.Ala576Pro