Canonical Allele Identifier: CA404896398

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18900042T>A (hg19) ; chr19:g.18789233T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789233T>A , CM000681.2:g.18789233T>A	GRCh38
NC_000019.9:g.18900042T>A , CM000681.1:g.18900042T>A	GRCh37
NC_000019.8:g.18761042T>A	NCBI36
NG_007070.1:g.7073A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.455A>T MANE Select	ENSP00000222271.2:p.Glu152Val
ENST00000222271.6:c.455A>T	ENSP00000222271.2:p.Glu152Val
ENST00000425807.1:c.391-341A>T	ENSP00000403792.1:n.391-341A>T
ENST00000542601.6:c.356A>T	ENSP00000439156.2:p.Glu119Val
NM_000095.2:c.455A>T	NP_000086.2:p.Glu152Val
NM_000095.3:c.455A>T MANE Select	NP_000086.2:p.Glu152Val