Canonical Allele Identifier: CA410407812

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194141A>G (hg19) ; chr21:g.43774260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774260A>G , CM000683.2:g.43774260A>G	GRCh38
NC_000021.8:g.45194141A>G , CM000683.1:g.45194141A>G	GRCh37
NC_000021.7:g.44018569A>G	NCBI36
NG_011545.1:g.7119T>C , LRG_485:g.7119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.239T>C MANE Select	ENSP00000291568.6:p.Leu80Ser
ENST00000480147.3:n.2009T>C
ENST00000639959.1:c.106T>C
ENST00000640406.1:c.*314T>C	ENSP00000492672.1:n.*314T>C
ENST00000675996.1:n.664T>C
ENST00000291568.5:c.239T>C	ENSP00000291568.5:p.Leu80Ser
ENST00000480147.1:n.603T>C
NM_000100.3:c.239T>C , LRG_485t1:c.239T>C	NP_000091.1:p.Leu80Ser
NM_000100.4:c.239T>C MANE Select	NP_000091.1:p.Leu80Ser