Canonical Allele Identifier: CA404896321

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18900030G>T (hg19) ; chr19:g.18789221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789221G>T , CM000681.2:g.18789221G>T	GRCh38
NC_000019.9:g.18900030G>T , CM000681.1:g.18900030G>T	GRCh37
NC_000019.8:g.18761030G>T	NCBI36
NG_007070.1:g.7085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.467C>A MANE Select	ENSP00000222271.2:p.Pro156Gln
ENST00000222271.6:c.467C>A	ENSP00000222271.2:p.Pro156Gln
ENST00000425807.1:c.391-329C>A	ENSP00000403792.1:n.391-329C>A
ENST00000542601.6:c.368C>A	ENSP00000439156.2:p.Pro123Gln
NM_000095.2:c.467C>A	NP_000086.2:p.Pro156Gln
NM_000095.3:c.467C>A MANE Select	NP_000086.2:p.Pro156Gln