Canonical Allele Identifier: CA404896548

Gene: COMP

Linked Data

• dbSNP Id: rs2055192913
• MyVariant Identifiers: chr19:g.18900069A>G (hg19) ; chr19:g.18789260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789260A>G , CM000681.2:g.18789260A>G	GRCh38
NC_000019.9:g.18900069A>G , CM000681.1:g.18900069A>G	GRCh37
NC_000019.8:g.18761069A>G	NCBI36
NG_007070.1:g.7046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.428T>C MANE Select	ENSP00000222271.2:p.Ile143Thr
ENST00000222271.6:c.428T>C	ENSP00000222271.2:p.Ile143Thr
ENST00000425807.1:c.391-368T>C	ENSP00000403792.1:n.391-368T>C
ENST00000542601.6:c.329T>C	ENSP00000439156.2:p.Ile110Thr
NM_000095.2:c.428T>C	NP_000086.2:p.Ile143Thr
NM_000095.3:c.428T>C MANE Select	NP_000086.2:p.Ile143Thr