Canonical Allele Identifier: CA404896699

Gene: COMP

Linked Data

• dbSNP Id: rs2145904163
• MyVariant Identifiers: chr19:g.18900091A>T (hg19) ; chr19:g.18789282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789282A>T , CM000681.2:g.18789282A>T	GRCh38
NC_000019.9:g.18900091A>T , CM000681.1:g.18900091A>T	GRCh37
NC_000019.8:g.18761091A>T	NCBI36
NG_007070.1:g.7024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.406T>A MANE Select	ENSP00000222271.2:p.Cys136Ser
ENST00000222271.6:c.406T>A	ENSP00000222271.2:p.Cys136Ser
ENST00000425807.1:c.391-390T>A	ENSP00000403792.1:n.391-390T>A
ENST00000542601.6:c.307T>A	ENSP00000439156.2:p.Cys103Ser
NM_000095.2:c.406T>A	NP_000086.2:p.Cys136Ser
NM_000095.3:c.406T>A MANE Select	NP_000086.2:p.Cys136Ser