Canonical Allele Identifier: CA410407781

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194133A>T (hg19) ; chr21:g.43774252A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774252A>T , CM000683.2:g.43774252A>T	GRCh38
NC_000021.8:g.45194133A>T , CM000683.1:g.45194133A>T	GRCh37
NC_000021.7:g.44018561A>T	NCBI36
NG_011545.1:g.7127T>A , LRG_485:g.7127T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.247T>A MANE Select	ENSP00000291568.6:p.Ser83Thr
ENST00000480147.3:n.2017T>A
ENST00000639959.1:c.114T>A
ENST00000640406.1:c.*322T>A	ENSP00000492672.1:n.*322T>A
ENST00000675996.1:n.672T>A
ENST00000291568.5:c.247T>A	ENSP00000291568.5:p.Ser83Thr
ENST00000480147.1:n.611T>A
NM_000100.3:c.247T>A , LRG_485t1:c.247T>A	NP_000091.1:p.Ser83Thr
NM_000100.4:c.247T>A MANE Select	NP_000091.1:p.Ser83Thr