Canonical Allele Identifier: CA9316539
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs757207641
COSMIC: COSM438985

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787509C>T , CM000681.2:g.18787509C>T GRCh38
NC_000019.9:g.18898318C>T , CM000681.1:g.18898318C>T GRCh37
NC_000019.8:g.18759318C>T NCBI36
NG_007070.1:g.8797G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1117G>A MANE Select ENSP00000222271.2:p.Asp373Asn
ENST00000222271.6:c.1117G>A ENSP00000222271.2:p.Asp373Asn
ENST00000425807.1:c.958G>A ENSP00000403792.1:p.Asp320Asn
ENST00000542601.6:c.1018G>A ENSP00000439156.2:p.Asp340Asn
NM_000095.2:c.1117G>A NP_000086.2:p.Asp373Asn
NM_000095.3:c.1117G>A MANE Select NP_000086.2:p.Asp373Asn