Canonical Allele Identifier: CA404878145
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1262213756

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784967T>C , CM000681.2:g.18784967T>C GRCh38
NC_000019.9:g.18895777T>C , CM000681.1:g.18895777T>C GRCh37
NC_000019.8:g.18756777T>C NCBI36
NG_007070.1:g.11338A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1843A>G MANE Select ENSP00000222271.2:p.Lys615Glu
ENST00000222271.6:c.1843A>G ENSP00000222271.2:p.Lys615Glu
ENST00000425807.1:c.1684A>G ENSP00000403792.1:p.Lys562Glu
ENST00000542601.6:c.1744A>G ENSP00000439156.2:p.Lys582Glu
NM_000095.2:c.1843A>G NP_000086.2:p.Lys615Glu
NM_000095.3:c.1843A>G MANE Select NP_000086.2:p.Lys615Glu