Canonical Allele Identifier: CA404884230

Gene: COMP

Linked Data

• dbSNP Id: rs1601053750
• MyVariant Identifiers: chr19:g.18896798T>G (hg19) ; chr19:g.18785988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785988T>G , CM000681.2:g.18785988T>G	GRCh38
NC_000019.9:g.18896798T>G , CM000681.1:g.18896798T>G	GRCh37
NC_000019.8:g.18757798T>G	NCBI36
NG_007070.1:g.10317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1466A>C MANE Select	ENSP00000222271.2:p.Asn489Thr
ENST00000222271.6:c.1466A>C	ENSP00000222271.2:p.Asn489Thr
ENST00000425807.1:c.1307A>C	ENSP00000403792.1:p.Asn436Thr
ENST00000542601.6:c.1367A>C	ENSP00000439156.2:p.Asn456Thr
NM_000095.2:c.1466A>C	NP_000086.2:p.Asn489Thr
NM_000095.3:c.1466A>C MANE Select	NP_000086.2:p.Asn489Thr