Canonical Allele Identifier: CA404883654

Gene: COMP

Linked Data

• gnomAD v4: 19-18785825-C-A
• MyVariant Identifiers: chr19:g.18896635C>A (hg19) ; chr19:g.18785825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785825C>A , CM000681.2:g.18785825C>A	GRCh38
NC_000019.9:g.18896635C>A , CM000681.1:g.18896635C>A	GRCh37
NC_000019.8:g.18757635C>A	NCBI36
NG_007070.1:g.10480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1516G>T MANE Select	ENSP00000222271.2:p.Asp506Tyr
ENST00000222271.6:c.1516G>T	ENSP00000222271.2:p.Asp506Tyr
ENST00000425807.1:c.1357G>T	ENSP00000403792.1:p.Asp453Tyr
ENST00000542601.6:c.1417G>T	ENSP00000439156.2:p.Asp473Tyr
NM_000095.2:c.1516G>T	NP_000086.2:p.Asp506Tyr
NM_000095.3:c.1516G>T MANE Select	NP_000086.2:p.Asp506Tyr