Canonical Allele Identifier: CA9316344

Gene: COMP

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)

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