Canonical Allele Identifier: CA404885707

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18897061C>T (hg19) ; chr19:g.18786251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786251C>T , CM000681.2:g.18786251C>T	GRCh38
NC_000019.9:g.18897061C>T , CM000681.1:g.18897061C>T	GRCh37
NC_000019.8:g.18758061C>T	NCBI36
NG_007070.1:g.10054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1295G>A MANE Select	ENSP00000222271.2:p.Ser432Asn
ENST00000222271.6:c.1295G>A	ENSP00000222271.2:p.Ser432Asn
ENST00000425807.1:c.1136G>A	ENSP00000403792.1:p.Ser379Asn
ENST00000542601.6:c.1196G>A	ENSP00000439156.2:p.Ser399Asn
ENST00000612179.1:n.545G>A
NM_000095.2:c.1295G>A	NP_000086.2:p.Ser432Asn
NM_000095.3:c.1295G>A MANE Select	NP_000086.2:p.Ser432Asn