Canonical Allele Identifier: CA16608085

Gene: CSTB

Linked Data

• ClinVar Variation Id: 382295
• ClinVar RCV Id: RCV000638335 ; RCV001142991 ; RCV001712232
• dbSNP Id: rs1057521317
• gnomAD v2: 21-45196106-C-T
• gnomAD v3: 21-43776225-C-T
• gnomAD v4: 21-43776225-C-T
• COSMIC: COSM4650930
• MyVariant Identifiers: chr21:g.45196106C>T (hg19) ; chr21:g.43776225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776225C>T , CM000683.2:g.43776225C>T	GRCh38
NC_000021.8:g.45196106C>T , CM000683.1:g.45196106C>T	GRCh37
NC_000021.7:g.44020534C>T	NCBI36
NG_011545.1:g.5154G>A , LRG_485:g.5154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.45G>A MANE Select	ENSP00000291568.6:p.Glu15=
ENST00000480147.3:n.44G>A
ENST00000639959.1:c.14G>A
ENST00000640406.1:c.45G>A	ENSP00000492672.1:p.Glu15=
ENST00000675996.1:n.106G>A
ENST00000291568.5:c.45G>A	ENSP00000291568.5:p.Glu15=
ENST00000480147.1:n.82G>A
NM_000100.3:c.45G>A , LRG_485t1:c.45G>A	NP_000091.1:p.Glu15=
NM_000100.4:c.45G>A MANE Select	NP_000091.1:p.Glu15=