Canonical Allele Identifier: CA9316361

Gene: COMP

Linked Data

• dbSNP Id: rs535198633
• ExAC: 19:18896603 C / A
• gnomAD v2: 19-18896603-C-A
• gnomAD v3: 19-18785793-C-A
• gnomAD v4: 19-18785793-C-A
• MyVariant Identifiers: chr19:g.18896603C>A (hg19) ; chr19:g.18785793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785793C>A , CM000681.2:g.18785793C>A	GRCh38
NC_000019.9:g.18896603C>A , CM000681.1:g.18896603C>A	GRCh37
NC_000019.8:g.18757603C>A	NCBI36
NG_007070.1:g.10512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1548G>T MANE Select	ENSP00000222271.2:p.Lys516Asn
ENST00000222271.6:c.1548G>T	ENSP00000222271.2:p.Lys516Asn
ENST00000425807.1:c.1389G>T	ENSP00000403792.1:p.Lys463Asn
ENST00000542601.6:c.1449G>T	ENSP00000439156.2:p.Lys483Asn
NM_000095.2:c.1548G>T	NP_000086.2:p.Lys516Asn
NM_000095.3:c.1548G>T MANE Select	NP_000086.2:p.Lys516Asn