Canonical Allele Identifier: CA506117346

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896534C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785724C>A , CM000681.2:g.18785724C>A	GRCh38
NC_000019.9:g.18896534C>A , CM000681.1:g.18896534C>A	GRCh37
NC_000019.8:g.18757534C>A	NCBI36
NG_007070.1:g.10581G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1617G>T MANE Select	ENSP00000222271.2:p.Leu539=
ENST00000222271.6:c.1617G>T	ENSP00000222271.2:p.Leu539=
ENST00000425807.1:c.1458G>T	ENSP00000403792.1:p.Leu486=
ENST00000542601.6:c.1518G>T	ENSP00000439156.2:p.Leu506=
NM_000095.2:c.1617G>T	NP_000086.2:p.Leu539=
NM_000095.3:c.1617G>T MANE Select	NP_000086.2:p.Leu539=