Canonical Allele Identifier: CA404882113

Gene: COMP

Linked Data

• gnomAD v4: 19-18785683-A-G
• MyVariant Identifiers: chr19:g.18896493A>G (hg19) ; chr19:g.18785683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785683A>G , CM000681.2:g.18785683A>G	GRCh38
NC_000019.9:g.18896493A>G , CM000681.1:g.18896493A>G	GRCh37
NC_000019.8:g.18757493A>G	NCBI36
NG_007070.1:g.10622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1658T>C MANE Select	ENSP00000222271.2:p.Val553Ala
ENST00000222271.6:c.1658T>C	ENSP00000222271.2:p.Val553Ala
ENST00000425807.1:c.1499T>C	ENSP00000403792.1:p.Val500Ala
ENST00000542601.6:c.1559T>C	ENSP00000439156.2:p.Val520Ala
NM_000095.2:c.1658T>C	NP_000086.2:p.Val553Ala
NM_000095.3:c.1658T>C MANE Select	NP_000086.2:p.Val553Ala