Canonical Allele Identifier: CA2326525380
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785800A= , CM000681.2:g.18785800A= GRCh38
NC_000019.9:g.18896610A= , CM000681.1:g.18896610A= GRCh37
NC_000019.8:g.18757610A= NCBI36
NG_007070.1:g.10505T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1541T= MANE Select ENSP00000222271.2:p.Val514=
ENST00000222271.6:c.1541T= ENSP00000222271.2:p.Val514=
ENST00000425807.1:c.1382T= ENSP00000403792.1:p.Val461=
ENST00000542601.6:c.1442T= ENSP00000439156.2:p.Val481=
NM_000095.2:c.1541T= NP_000086.2:p.Val514=
NM_000095.3:c.1541T= MANE Select NP_000086.2:p.Val514=