Canonical Allele Identifier: CA9316551

Gene: COMP

Linked Data

• ClinVar Variation Id: 2968229
• ClinVar RCV Id: RCV003821355
• dbSNP Id: rs771322282
• ExAC: 19:18898380 C / T
• gnomAD v2: 19-18898380-C-T
• gnomAD v3: 19-18787571-C-T
• gnomAD v4: 19-18787571-C-T
• MyVariant Identifiers: chr19:g.18898380C>T (hg19) ; chr19:g.18787571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787571C>T , CM000681.2:g.18787571C>T	GRCh38
NC_000019.9:g.18898380C>T , CM000681.1:g.18898380C>T	GRCh37
NC_000019.8:g.18759380C>T	NCBI36
NG_007070.1:g.8735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1055G>A MANE Select	ENSP00000222271.2:p.Arg352Gln
ENST00000222271.6:c.1055G>A	ENSP00000222271.2:p.Arg352Gln
ENST00000425807.1:c.896G>A	ENSP00000403792.1:p.Arg299Gln
ENST00000542601.6:c.956G>A	ENSP00000439156.2:p.Arg319Gln
NM_000095.2:c.1055G>A	NP_000086.2:p.Arg352Gln
NM_000095.3:c.1055G>A MANE Select	NP_000086.2:p.Arg352Gln