Canonical Allele Identifier: CA410407936

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194174A>T (hg19) ; chr21:g.43774293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774293A>T , CM000683.2:g.43774293A>T	GRCh38
NC_000021.8:g.45194174A>T , CM000683.1:g.45194174A>T	GRCh37
NC_000021.7:g.44018602A>T	NCBI36
NG_011545.1:g.7086T>A , LRG_485:g.7086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.206T>A MANE Select	ENSP00000291568.6:p.Val69Glu
ENST00000480147.3:n.1976T>A
ENST00000639959.1:c.73T>A
ENST00000640406.1:c.*281T>A	ENSP00000492672.1:n.*281T>A
ENST00000675996.1:n.631T>A
ENST00000291568.5:c.206T>A	ENSP00000291568.5:p.Val69Glu
ENST00000480147.1:n.570T>A
NM_000100.3:c.206T>A , LRG_485t1:c.206T>A	NP_000091.1:p.Val69Glu
NM_000100.4:c.206T>A MANE Select	NP_000091.1:p.Val69Glu