Canonical Allele Identifier: CA506117367

Gene: COMP

Linked Data

• gnomAD v4: 19-18785730-G-T
• COSMIC: COSM6250889
• MyVariant Identifiers: chr19:g.18896540G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785730G>T , CM000681.2:g.18785730G>T	GRCh38
NC_000019.9:g.18896540G>T , CM000681.1:g.18896540G>T	GRCh37
NC_000019.8:g.18757540G>T	NCBI36
NG_007070.1:g.10575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1611C>A MANE Select	ENSP00000222271.2:p.Val537=
ENST00000222271.6:c.1611C>A	ENSP00000222271.2:p.Val537=
ENST00000425807.1:c.1452C>A	ENSP00000403792.1:p.Val484=
ENST00000542601.6:c.1512C>A	ENSP00000439156.2:p.Val504=
NM_000095.2:c.1611C>A	NP_000086.2:p.Val537=
NM_000095.3:c.1611C>A MANE Select	NP_000086.2:p.Val537=