Canonical Allele Identifier: CA404887731
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787501G>C , CM000681.2:g.18787501G>C GRCh38
NC_000019.9:g.18898310G>C , CM000681.1:g.18898310G>C GRCh37
NC_000019.8:g.18759310G>C NCBI36
NG_007070.1:g.8805C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1125C>G MANE Select ENSP00000222271.2:p.Ile375Met
ENST00000222271.6:c.1125C>G ENSP00000222271.2:p.Ile375Met
ENST00000425807.1:c.966C>G ENSP00000403792.1:p.Ile322Met
ENST00000542601.6:c.1026C>G ENSP00000439156.2:p.Ile342Met
NM_000095.2:c.1125C>G NP_000086.2:p.Ile375Met
NM_000095.3:c.1125C>G MANE Select NP_000086.2:p.Ile375Met