Canonical Allele Identifier: CA404885786
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786258A>C , CM000681.2:g.18786258A>C GRCh38
NC_000019.9:g.18897068A>C , CM000681.1:g.18897068A>C GRCh37
NC_000019.8:g.18758068A>C NCBI36
NG_007070.1:g.10047T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1288T>G MANE Select ENSP00000222271.2:p.Cys430Gly
ENST00000222271.6:c.1288T>G ENSP00000222271.2:p.Cys430Gly
ENST00000425807.1:c.1129T>G ENSP00000403792.1:p.Cys377Gly
ENST00000542601.6:c.1189T>G ENSP00000439156.2:p.Cys397Gly
ENST00000612179.1:n.538T>G
NM_000095.2:c.1288T>G NP_000086.2:p.Cys430Gly
NM_000095.3:c.1288T>G MANE Select NP_000086.2:p.Cys430Gly