Canonical Allele Identifier: CA404896631

Gene: COMP

Linked Data

• gnomAD v4: 19-18789273-G-A
• MyVariant Identifiers: chr19:g.18900082G>A (hg19) ; chr19:g.18789273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789273G>A , CM000681.2:g.18789273G>A	GRCh38
NC_000019.9:g.18900082G>A , CM000681.1:g.18900082G>A	GRCh37
NC_000019.8:g.18761082G>A	NCBI36
NG_007070.1:g.7033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.415C>T MANE Select	ENSP00000222271.2:p.Arg139Ter
ENST00000222271.6:c.415C>T	ENSP00000222271.2:p.Arg139Ter
ENST00000425807.1:c.391-381C>T	ENSP00000403792.1:n.391-381C>T
ENST00000542601.6:c.316C>T	ENSP00000439156.2:p.Arg106Ter
NM_000095.2:c.415C>T	NP_000086.2:p.Arg139Ter
NM_000095.3:c.415C>T MANE Select	NP_000086.2:p.Arg139Ter