Canonical Allele Identifier: CA404896553

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18900070T>A (hg19) ; chr19:g.18789261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789261T>A , CM000681.2:g.18789261T>A	GRCh38
NC_000019.9:g.18900070T>A , CM000681.1:g.18900070T>A	GRCh37
NC_000019.8:g.18761070T>A	NCBI36
NG_007070.1:g.7045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.427A>T MANE Select	ENSP00000222271.2:p.Ile143Phe
ENST00000222271.6:c.427A>T	ENSP00000222271.2:p.Ile143Phe
ENST00000425807.1:c.391-369A>T	ENSP00000403792.1:n.391-369A>T
ENST00000542601.6:c.328A>T	ENSP00000439156.2:p.Ile110Phe
NM_000095.2:c.427A>T	NP_000086.2:p.Ile143Phe
NM_000095.3:c.427A>T MANE Select	NP_000086.2:p.Ile143Phe