Canonical Allele Identifier: CA404883849

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896657G>T (hg19) ; chr19:g.18785847G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785847G>T , CM000681.2:g.18785847G>T	GRCh38
NC_000019.9:g.18896657G>T , CM000681.1:g.18896657G>T	GRCh37
NC_000019.8:g.18757657G>T	NCBI36
NG_007070.1:g.10458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1494C>A MANE Select	ENSP00000222271.2:p.Asp498Glu
ENST00000222271.6:c.1494C>A	ENSP00000222271.2:p.Asp498Glu
ENST00000425807.1:c.1335C>A	ENSP00000403792.1:p.Asp445Glu
ENST00000542601.6:c.1395C>A	ENSP00000439156.2:p.Asp465Glu
NM_000095.2:c.1494C>A	NP_000086.2:p.Asp498Glu
NM_000095.3:c.1494C>A MANE Select	NP_000086.2:p.Asp498Glu