Canonical Allele Identifier: CA404887735
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2649592
ClinVar RCV Id: RCV003415155

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787502A>G , CM000681.2:g.18787502A>G GRCh38
NC_000019.9:g.18898311A>G , CM000681.1:g.18898311A>G GRCh37
NC_000019.8:g.18759311A>G NCBI36
NG_007070.1:g.8804T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1124T>C MANE Select ENSP00000222271.2:p.Ile375Thr
ENST00000222271.6:c.1124T>C ENSP00000222271.2:p.Ile375Thr
ENST00000425807.1:c.965T>C ENSP00000403792.1:p.Ile322Thr
ENST00000542601.6:c.1025T>C ENSP00000439156.2:p.Ile342Thr
NM_000095.2:c.1124T>C NP_000086.2:p.Ile375Thr
NM_000095.3:c.1124T>C MANE Select NP_000086.2:p.Ile375Thr