Canonical Allele Identifier: CA404882200
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055160596

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785690A>G , CM000681.2:g.18785690A>G GRCh38
NC_000019.9:g.18896500A>G , CM000681.1:g.18896500A>G GRCh37
NC_000019.8:g.18757500A>G NCBI36
NG_007070.1:g.10615T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1651T>C MANE Select ENSP00000222271.2:p.Trp551Arg
ENST00000222271.6:c.1651T>C ENSP00000222271.2:p.Trp551Arg
ENST00000425807.1:c.1492T>C ENSP00000403792.1:p.Trp498Arg
ENST00000542601.6:c.1552T>C ENSP00000439156.2:p.Trp518Arg
NM_000095.2:c.1651T>C NP_000086.2:p.Trp551Arg
NM_000095.3:c.1651T>C MANE Select NP_000086.2:p.Trp551Arg