Canonical Allele Identifier: CA404885847

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18897074C>G (hg19) ; chr19:g.18786264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786264C>G , CM000681.2:g.18786264C>G	GRCh38
NC_000019.9:g.18897074C>G , CM000681.1:g.18897074C>G	GRCh37
NC_000019.8:g.18758074C>G	NCBI36
NG_007070.1:g.10041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1282G>C MANE Select	ENSP00000222271.2:p.Asp428His
ENST00000222271.6:c.1282G>C	ENSP00000222271.2:p.Asp428His
ENST00000425807.1:c.1123G>C	ENSP00000403792.1:p.Asp375His
ENST00000542601.6:c.1183G>C	ENSP00000439156.2:p.Asp395His
ENST00000612179.1:n.532G>C
NM_000095.2:c.1282G>C	NP_000086.2:p.Asp428His
NM_000095.3:c.1282G>C MANE Select	NP_000086.2:p.Asp428His