Canonical Allele Identifier: CA404882512

Gene: COMP

Linked Data

• gnomAD v4: 19-18785713-C-A
• MyVariant Identifiers: chr19:g.18896523C>A (hg19) ; chr19:g.18785713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785713C>A , CM000681.2:g.18785713C>A	GRCh38
NC_000019.9:g.18896523C>A , CM000681.1:g.18896523C>A	GRCh37
NC_000019.8:g.18757523C>A	NCBI36
NG_007070.1:g.10592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1628G>T MANE Select	ENSP00000222271.2:p.Gly543Val
ENST00000222271.6:c.1628G>T	ENSP00000222271.2:p.Gly543Val
ENST00000425807.1:c.1469G>T	ENSP00000403792.1:p.Gly490Val
ENST00000542601.6:c.1529G>T	ENSP00000439156.2:p.Gly510Val
NM_000095.2:c.1628G>T	NP_000086.2:p.Gly543Val
NM_000095.3:c.1628G>T MANE Select	NP_000086.2:p.Gly543Val