Canonical Allele Identifier: CA404883780
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 449473
ClinVar RCV Id: RCV000520014
dbSNP Id: rs1555791425
MyVariant Identifiers: chr19:g.18896649C>T (hg19) chr19:g.18785839C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785839C>T , CM000681.2:g.18785839C>T GRCh38
NC_000019.9:g.18896649C>T , CM000681.1:g.18896649C>T GRCh37
NC_000019.8:g.18757649C>T NCBI36
NG_007070.1:g.10466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1502G>A MANE Select ENSP00000222271.2:p.Gly501Asp
ENST00000222271.6:c.1502G>A ENSP00000222271.2:p.Gly501Asp
ENST00000425807.1:c.1343G>A ENSP00000403792.1:p.Gly448Asp
ENST00000542601.6:c.1403G>A ENSP00000439156.2:p.Gly468Asp
NM_000095.2:c.1502G>A NP_000086.2:p.Gly501Asp
NM_000095.3:c.1502G>A MANE Select NP_000086.2:p.Gly501Asp
Search 100 bp 5'
Search 100 bp 3'