Canonical Allele Identifier: CA404883204

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896591A>T (hg19) ; chr19:g.18785781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785781A>T , CM000681.2:g.18785781A>T	GRCh38
NC_000019.9:g.18896591A>T , CM000681.1:g.18896591A>T	GRCh37
NC_000019.8:g.18757591A>T	NCBI36
NG_007070.1:g.10524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1560T>A MANE Select	ENSP00000222271.2:p.Cys520Ter
ENST00000222271.6:c.1560T>A	ENSP00000222271.2:p.Cys520Ter
ENST00000425807.1:c.1401T>A	ENSP00000403792.1:p.Cys467Ter
ENST00000542601.6:c.1461T>A	ENSP00000439156.2:p.Cys487Ter
NM_000095.2:c.1560T>A	NP_000086.2:p.Cys520Ter
NM_000095.3:c.1560T>A MANE Select	NP_000086.2:p.Cys520Ter