Canonical Allele Identifier: CA404882252

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896505G>A (hg19) ; chr19:g.18785695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785695G>A , CM000681.2:g.18785695G>A	GRCh38
NC_000019.9:g.18896505G>A , CM000681.1:g.18896505G>A	GRCh37
NC_000019.8:g.18757505G>A	NCBI36
NG_007070.1:g.10610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1646C>T MANE Select	ENSP00000222271.2:p.Pro549Leu
ENST00000222271.6:c.1646C>T	ENSP00000222271.2:p.Pro549Leu
ENST00000425807.1:c.1487C>T	ENSP00000403792.1:p.Pro496Leu
ENST00000542601.6:c.1547C>T	ENSP00000439156.2:p.Pro516Leu
NM_000095.2:c.1646C>T	NP_000086.2:p.Pro549Leu
NM_000095.3:c.1646C>T MANE Select	NP_000086.2:p.Pro549Leu