Canonical Allele Identifier: CA410407582

Gene: CSTB

Linked Data

• dbSNP Id: rs1485823721
• gnomAD v2: 21-45194084-C-A
• gnomAD v4: 21-43774203-C-A
• MyVariant Identifiers: chr21:g.45194084C>A (hg19) ; chr21:g.43774203C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774203C>A , CM000683.2:g.43774203C>A	GRCh38
NC_000021.8:g.45194084C>A , CM000683.1:g.45194084C>A	GRCh37
NC_000021.7:g.44018512C>A	NCBI36
NG_011545.1:g.7176G>T , LRG_485:g.7176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291568.7:c.296G>T MANE Select	ENSP00000291568.6:p.Ter99Leu
ENST00000480147.3:n.2066G>T
ENST00000639959.1:c.163G>T
ENST00000640406.1:c.*371G>T	ENSP00000492672.1:n.*371G>T
ENST00000675996.1:n.721G>T
ENST00000291568.5:c.296G>T	ENSP00000291568.5:p.Ter99Leu
ENST00000480147.1:n.660G>T
NM_000100.3:c.296G>T , LRG_485t1:c.296G>T	NP_000091.1:p.Ter99Leu
NM_000100.4:c.296G>T MANE Select	NP_000091.1:p.Ter99Leu