Canonical Allele Identifier: CA506117300

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896510A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785700A>T , CM000681.2:g.18785700A>T	GRCh38
NC_000019.9:g.18896510A>T , CM000681.1:g.18896510A>T	GRCh37
NC_000019.8:g.18757510A>T	NCBI36
NG_007070.1:g.10605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1641T>A MANE Select	ENSP00000222271.2:p.Ile547=
ENST00000222271.6:c.1641T>A	ENSP00000222271.2:p.Ile547=
ENST00000425807.1:c.1482T>A	ENSP00000403792.1:p.Ile494=
ENST00000542601.6:c.1542T>A	ENSP00000439156.2:p.Ile514=
NM_000095.2:c.1641T>A	NP_000086.2:p.Ile547=
NM_000095.3:c.1641T>A MANE Select	NP_000086.2:p.Ile547=