Canonical Allele Identifier: CA9316351

Gene: COMP

Linked Data

• ClinVar Variation Id: 328615
• ClinVar RCV Id: RCV000320583 ; RCV000375163 ; RCV002521199 ; RCV003897750
• dbSNP Id: rs759687021
• ExAC: 19:18896561 G / T
• gnomAD v2: 19-18896561-G-T
• gnomAD v3: 19-18785751-G-T
• gnomAD v4: 19-18785751-G-T
• MyVariant Identifiers: chr19:g.18896561G>T (hg19) ; chr19:g.18785751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785751G>T , CM000681.2:g.18785751G>T	GRCh38
NC_000019.9:g.18896561G>T , CM000681.1:g.18896561G>T	GRCh37
NC_000019.8:g.18757561G>T	NCBI36
NG_007070.1:g.10554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1590C>A MANE Select	ENSP00000222271.2:p.Asp530Glu
ENST00000222271.6:c.1590C>A	ENSP00000222271.2:p.Asp530Glu
ENST00000425807.1:c.1431C>A	ENSP00000403792.1:p.Asp477Glu
ENST00000542601.6:c.1491C>A	ENSP00000439156.2:p.Asp497Glu
NM_000095.2:c.1590C>A	NP_000086.2:p.Asp530Glu
NM_000095.3:c.1590C>A MANE Select	NP_000086.2:p.Asp530Glu