Canonical Allele Identifier: CA404885209

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896939T>G (hg19) ; chr19:g.18786129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786129T>G , CM000681.2:g.18786129T>G	GRCh38
NC_000019.9:g.18896939T>G , CM000681.1:g.18896939T>G	GRCh37
NC_000019.8:g.18757939T>G	NCBI36
NG_007070.1:g.10176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1325A>C MANE Select	ENSP00000222271.2:p.Gln442Pro
ENST00000222271.6:c.1325A>C	ENSP00000222271.2:p.Gln442Pro
ENST00000425807.1:c.1166A>C	ENSP00000403792.1:p.Gln389Pro
ENST00000542601.6:c.1226A>C	ENSP00000439156.2:p.Gln409Pro
ENST00000612179.1:n.575A>C
NM_000095.2:c.1325A>C	NP_000086.2:p.Gln442Pro
NM_000095.3:c.1325A>C MANE Select	NP_000086.2:p.Gln442Pro