Canonical Allele Identifier: CA404885346

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896953A>C (hg19) ; chr19:g.18786143A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786143A>C , CM000681.2:g.18786143A>C	GRCh38
NC_000019.9:g.18896953A>C , CM000681.1:g.18896953A>C	GRCh37
NC_000019.8:g.18757953A>C	NCBI36
NG_007070.1:g.10162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1311T>G MANE Select	ENSP00000222271.2:p.Asp437Glu
ENST00000222271.6:c.1311T>G	ENSP00000222271.2:p.Asp437Glu
ENST00000425807.1:c.1152T>G	ENSP00000403792.1:p.Asp384Glu
ENST00000542601.6:c.1212T>G	ENSP00000439156.2:p.Asp404Glu
ENST00000612179.1:n.561T>G
NM_000095.2:c.1311T>G	NP_000086.2:p.Asp437Glu
NM_000095.3:c.1311T>G MANE Select	NP_000086.2:p.Asp437Glu