Canonical Allele Identifier: CA344888
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 65555
ClinVar RCV Id: RCV002054895
dbSNP Id: rs397515512
MyVariant Identifiers: chr19:g.18895807C>T (hg19) chr19:g.18784997C>T (hg38)
PubMed: PMID:20301302
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784997C>T , CM000681.2:g.18784997C>T GRCh38
NC_000019.9:g.18895807C>T , CM000681.1:g.18895807C>T GRCh37
NC_000019.8:g.18756807C>T NCBI36
NG_007070.1:g.11308G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1813G>A MANE Select ENSP00000222271.2:p.Asp605Asn
ENST00000222271.6:c.1813G>A ENSP00000222271.2:p.Asp605Asn
ENST00000425807.1:c.1654G>A ENSP00000403792.1:p.Asp552Asn
ENST00000542601.6:c.1714G>A ENSP00000439156.2:p.Asp572Asn
NM_000095.2:c.1813G>A NP_000086.2:p.Asp605Asn
NM_000095.3:c.1813G>A MANE Select NP_000086.2:p.Asp605Asn
Search 100 bp 5'
Search 100 bp 3'