Canonical Allele Identifier: CA638493621

Gene: CSTB

Linked Data

• dbSNP Id: rs1476371160
• gnomAD v2: 21-45194528-C-T
• gnomAD v4: 21-43774647-C-T
• MyVariant Identifiers: chr21:g.45194528C>T (hg19) ; chr21:g.43774647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774647C>T , CM000683.2:g.43774647C>T	GRCh38
NC_000021.8:g.45194528C>T , CM000683.1:g.45194528C>T	GRCh37
NC_000021.7:g.44018956C>T	NCBI36
NG_011545.1:g.6732G>A , LRG_485:g.6732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.168+11G>A MANE Select	ENSP00000291568.6:n.168+11G>A
ENST00000480147.3:n.1622G>A
ENST00000639959.1:c.36-317G>A
ENST00000640406.1:c.179G>A	ENSP00000492672.1:p.Gly60Glu
ENST00000675996.1:n.593+11G>A
ENST00000291568.5:c.168+11G>A	ENSP00000291568.5:n.168+11G>A
ENST00000480147.1:n.216G>A
NM_000100.3:c.168+11G>A , LRG_485t1:c.168+11G>A	NP_000091.1:n.168+11G>A
NM_000100.4:c.168+11G>A MANE Select	NP_000091.1:n.168+11G>A