Canonical Allele Identifier: CA404885283

Gene: COMP

Linked Data

• ClinVar Variation Id: 2631497
• ClinVar RCV Id: RCV003404620
• MyVariant Identifiers: chr19:g.18896947G>T (hg19) ; chr19:g.18786137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786137G>T , CM000681.2:g.18786137G>T	GRCh38
NC_000019.9:g.18896947G>T , CM000681.1:g.18896947G>T	GRCh37
NC_000019.8:g.18757947G>T	NCBI36
NG_007070.1:g.10168C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1317C>A MANE Select	ENSP00000222271.2:p.Asp439Glu
ENST00000222271.6:c.1317C>A	ENSP00000222271.2:p.Asp439Glu
ENST00000425807.1:c.1158C>A	ENSP00000403792.1:p.Asp386Glu
ENST00000542601.6:c.1218C>A	ENSP00000439156.2:p.Asp406Glu
ENST00000612179.1:n.567C>A
NM_000095.2:c.1317C>A	NP_000086.2:p.Asp439Glu
NM_000095.3:c.1317C>A MANE Select	NP_000086.2:p.Asp439Glu