Canonical Allele Identifier: CA306255118
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1505995
ClinVar RCV Id: RCV002004327
dbSNP Id: rs748431274

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785985G>C , CM000681.2:g.18785985G>C GRCh38
NC_000019.9:g.18896795G>C , CM000681.1:g.18896795G>C GRCh37
NC_000019.8:g.18757795G>C NCBI36
NG_007070.1:g.10320C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1469C>G MANE Select ENSP00000222271.2:p.Pro490Arg
ENST00000222271.6:c.1469C>G ENSP00000222271.2:p.Pro490Arg
ENST00000425807.1:c.1310C>G ENSP00000403792.1:p.Pro437Arg
ENST00000542601.6:c.1370C>G ENSP00000439156.2:p.Pro457Arg
NM_000095.2:c.1469C>G NP_000086.2:p.Pro490Arg
NM_000095.3:c.1469C>G MANE Select NP_000086.2:p.Pro490Arg