Canonical Allele Identifier: CA404884222
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785987G>C , CM000681.2:g.18785987G>C GRCh38
NC_000019.9:g.18896797G>C , CM000681.1:g.18896797G>C GRCh37
NC_000019.8:g.18757797G>C NCBI36
NG_007070.1:g.10318C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1467C>G MANE Select ENSP00000222271.2:p.Asn489Lys
ENST00000222271.6:c.1467C>G ENSP00000222271.2:p.Asn489Lys
ENST00000425807.1:c.1308C>G ENSP00000403792.1:p.Asn436Lys
ENST00000542601.6:c.1368C>G ENSP00000439156.2:p.Asn456Lys
NM_000095.2:c.1467C>G NP_000086.2:p.Asn489Lys
NM_000095.3:c.1467C>G MANE Select NP_000086.2:p.Asn489Lys