Canonical Allele Identifier: CA404883190
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785779G>T , CM000681.2:g.18785779G>T GRCh38
NC_000019.9:g.18896589G>T , CM000681.1:g.18896589G>T GRCh37
NC_000019.8:g.18757589G>T NCBI36
NG_007070.1:g.10526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1562C>A MANE Select ENSP00000222271.2:p.Pro521Gln
ENST00000222271.6:c.1562C>A ENSP00000222271.2:p.Pro521Gln
ENST00000425807.1:c.1403C>A ENSP00000403792.1:p.Pro468Gln
ENST00000542601.6:c.1463C>A ENSP00000439156.2:p.Pro488Gln
NM_000095.2:c.1562C>A NP_000086.2:p.Pro521Gln
NM_000095.3:c.1562C>A MANE Select NP_000086.2:p.Pro521Gln