Canonical Allele Identifier: CA404884122
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1601053711

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785976T>C , CM000681.2:g.18785976T>C GRCh38
NC_000019.9:g.18896786T>C , CM000681.1:g.18896786T>C GRCh37
NC_000019.8:g.18757786T>C NCBI36
NG_007070.1:g.10329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1478A>G MANE Select ENSP00000222271.2:p.Glu493Gly
ENST00000222271.6:c.1478A>G ENSP00000222271.2:p.Glu493Gly
ENST00000425807.1:c.1319A>G ENSP00000403792.1:p.Glu440Gly
ENST00000542601.6:c.1379A>G ENSP00000439156.2:p.Glu460Gly
NM_000095.2:c.1478A>G NP_000086.2:p.Glu493Gly
NM_000095.3:c.1478A>G MANE Select NP_000086.2:p.Glu493Gly