Canonical Allele Identifier: CA404885854

Gene: COMP

Linked Data

• ClinVar Variation Id: 2578090
• ClinVar RCV Id: RCV003325689
• MyVariant Identifiers: chr19:g.18897076C>G (hg19) ; chr19:g.18786266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786266C>G , CM000681.2:g.18786266C>G	GRCh38
NC_000019.9:g.18897076C>G , CM000681.1:g.18897076C>G	GRCh37
NC_000019.8:g.18758076C>G	NCBI36
NG_007070.1:g.10039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1280G>C MANE Select	ENSP00000222271.2:p.Gly427Ala
ENST00000222271.6:c.1280G>C	ENSP00000222271.2:p.Gly427Ala
ENST00000425807.1:c.1121G>C	ENSP00000403792.1:p.Gly374Ala
ENST00000542601.6:c.1181G>C	ENSP00000439156.2:p.Gly394Ala
ENST00000612179.1:n.530G>C
NM_000095.2:c.1280G>C	NP_000086.2:p.Gly427Ala
NM_000095.3:c.1280G>C MANE Select	NP_000086.2:p.Gly427Ala