Canonical Allele Identifier: CA404877827
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784918G>A , CM000681.2:g.18784918G>A GRCh38
NC_000019.9:g.18895728G>A , CM000681.1:g.18895728G>A GRCh37
NC_000019.8:g.18756728G>A NCBI36
NG_007070.1:g.11387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1892C>T MANE Select ENSP00000222271.2:p.Ala631Val
ENST00000222271.6:c.1892C>T ENSP00000222271.2:p.Ala631Val
ENST00000425807.1:c.1733C>T ENSP00000403792.1:p.Ala578Val
ENST00000542601.6:c.1793C>T ENSP00000439156.2:p.Ala598Val
NM_000095.2:c.1892C>T NP_000086.2:p.Ala631Val
NM_000095.3:c.1892C>T MANE Select NP_000086.2:p.Ala631Val