Canonical Allele Identifier: CA9316344
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1476680
ClinVar RCV Id: RCV001998184
dbSNP Id: rs566112479
ExAC: 19:18896519 G / T
gnomAD v2: 19-18896519-G-T
gnomAD v3: 19-18785709-G-T
gnomAD v4: 19-18785709-G-T
MyVariant Identifiers: chr19:g.18896519G>T (hg19) chr19:g.18785709G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785709G>T , CM000681.2:g.18785709G>T GRCh38
NC_000019.9:g.18896519G>T , CM000681.1:g.18896519G>T GRCh37
NC_000019.8:g.18757519G>T NCBI36
NG_007070.1:g.10596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1632C>A MANE Select ENSP00000222271.2:p.Asp544Glu
ENST00000222271.6:c.1632C>A ENSP00000222271.2:p.Asp544Glu
ENST00000425807.1:c.1473C>A ENSP00000403792.1:p.Asp491Glu
ENST00000542601.6:c.1533C>A ENSP00000439156.2:p.Asp511Glu
NM_000095.2:c.1632C>A NP_000086.2:p.Asp544Glu
NM_000095.3:c.1632C>A MANE Select NP_000086.2:p.Asp544Glu
Search 100 bp 5'
Search 100 bp 3'