Canonical Allele Identifier: CA343855
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 40990
ClinVar RCV Id: RCV000033882 RCV000489545
dbSNP Id: rs312262903
MyVariant Identifiers: chr19:g.18896565G>A (hg19) chr19:g.18785755G>A (hg38)
PubMed: PMID:20301660
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785755G>A , CM000681.2:g.18785755G>A GRCh38
NC_000019.9:g.18896565G>A , CM000681.1:g.18896565G>A GRCh37
NC_000019.8:g.18757565G>A NCBI36
NG_007070.1:g.10550C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1586C>T MANE Select ENSP00000222271.2:p.Thr529Ile
ENST00000222271.6:c.1586C>T ENSP00000222271.2:p.Thr529Ile
ENST00000425807.1:c.1427C>T ENSP00000403792.1:p.Thr476Ile
ENST00000542601.6:c.1487C>T ENSP00000439156.2:p.Thr496Ile
NM_000095.2:c.1586C>T NP_000086.2:p.Thr529Ile
NM_000095.3:c.1586C>T MANE Select NP_000086.2:p.Thr529Ile
Search 100 bp 5'
Search 100 bp 3'