Canonical Allele Identifier: CA512473566

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194098C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774217C>T , CM000683.2:g.43774217C>T	GRCh38
NC_000021.8:g.45194098C>T , CM000683.1:g.45194098C>T	GRCh37
NC_000021.7:g.44018526C>T	NCBI36
NG_011545.1:g.7162G>A , LRG_485:g.7162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.282G>A MANE Select	ENSP00000291568.6:p.Glu94=
ENST00000480147.3:n.2052G>A
ENST00000639959.1:c.149G>A
ENST00000640406.1:c.*357G>A	ENSP00000492672.1:n.*357G>A
ENST00000675996.1:n.707G>A
ENST00000291568.5:c.282G>A	ENSP00000291568.5:p.Glu94=
ENST00000480147.1:n.646G>A
NM_000100.3:c.282G>A , LRG_485t1:c.282G>A	NP_000091.1:p.Glu94=
NM_000100.4:c.282G>A MANE Select	NP_000091.1:p.Glu94=