Canonical Allele Identifier: CA404883338

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896604T>C (hg19) ; chr19:g.18785794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785794T>C , CM000681.2:g.18785794T>C	GRCh38
NC_000019.9:g.18896604T>C , CM000681.1:g.18896604T>C	GRCh37
NC_000019.8:g.18757604T>C	NCBI36
NG_007070.1:g.10511A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1547A>G MANE Select	ENSP00000222271.2:p.Lys516Arg
ENST00000222271.6:c.1547A>G	ENSP00000222271.2:p.Lys516Arg
ENST00000425807.1:c.1388A>G	ENSP00000403792.1:p.Lys463Arg
ENST00000542601.6:c.1448A>G	ENSP00000439156.2:p.Lys483Arg
NM_000095.2:c.1547A>G	NP_000086.2:p.Lys516Arg
NM_000095.3:c.1547A>G MANE Select	NP_000086.2:p.Lys516Arg