Canonical Allele Identifier: CA404879318

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18895891A>C (hg19) ; chr19:g.18785081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785081A>C , CM000681.2:g.18785081A>C	GRCh38
NC_000019.9:g.18895891A>C , CM000681.1:g.18895891A>C	GRCh37
NC_000019.8:g.18756891A>C	NCBI36
NG_007070.1:g.11224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1729T>G MANE Select	ENSP00000222271.2:p.Phe577Val
ENST00000222271.6:c.1729T>G	ENSP00000222271.2:p.Phe577Val
ENST00000425807.1:c.1570T>G	ENSP00000403792.1:p.Phe524Val
ENST00000542601.6:c.1630T>G	ENSP00000439156.2:p.Phe544Val
NM_000095.2:c.1729T>G	NP_000086.2:p.Phe577Val
NM_000095.3:c.1729T>G MANE Select	NP_000086.2:p.Phe577Val