Canonical Allele Identifier: CA404896378

Gene: COMP

Linked Data

• gnomAD v4: 19-18789230-G-A
• MyVariant Identifiers: chr19:g.18900039G>A (hg19) ; chr19:g.18789230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789230G>A , CM000681.2:g.18789230G>A	GRCh38
NC_000019.9:g.18900039G>A , CM000681.1:g.18900039G>A	GRCh37
NC_000019.8:g.18761039G>A	NCBI36
NG_007070.1:g.7076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.458C>T MANE Select	ENSP00000222271.2:p.Ala153Val
ENST00000222271.6:c.458C>T	ENSP00000222271.2:p.Ala153Val
ENST00000425807.1:c.391-338C>T	ENSP00000403792.1:n.391-338C>T
ENST00000542601.6:c.359C>T	ENSP00000439156.2:p.Ala120Val
NM_000095.2:c.458C>T	NP_000086.2:p.Ala153Val
NM_000095.3:c.458C>T MANE Select	NP_000086.2:p.Ala153Val