Canonical Allele Identifier: CA314286

Gene: CSTB

Linked Data

• ClinVar Variation Id: 161418
• ClinVar RCV Id: RCV000187279 ; RCV000202565 ; RCV000622652 ; RCV000811370
• dbSNP Id: rs545986367
• ExAC: 21:45194571 G / A
• gnomAD v2: 21-45194571-G-A
• gnomAD v3: 21-43774690-G-A
• gnomAD v4: 21-43774690-G-A
• MyVariant Identifiers: chr21:g.45194571G>A (hg19) ; chr21:g.43774690G>A (hg38)
• PubMed: PMID:12058102 ; PMID:17158032 ; PMID:18325013 ; PMID:20301321 ; PMID:21757863 ; PMID:22154554 ; PMID:23205931 ; PMID:26843564 ; PMID:28378817

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774690G>A , CM000683.2:g.43774690G>A	GRCh38
NC_000021.8:g.45194571G>A , CM000683.1:g.45194571G>A	GRCh37
NC_000021.7:g.44018999G>A	NCBI36
NG_011545.1:g.6689C>T , LRG_485:g.6689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.136C>T MANE Select	ENSP00000291568.6:p.Gln46Ter
ENST00000480147.3:n.1579C>T
ENST00000639959.1:c.36-360C>T
ENST00000640406.1:c.136C>T	ENSP00000492672.1:p.Gln46Ter
ENST00000675996.1:n.561C>T
ENST00000291568.5:c.136C>T	ENSP00000291568.5:p.Gln46Ter
ENST00000480147.1:n.173C>T
NM_000100.3:c.136C>T , LRG_485t1:c.136C>T	NP_000091.1:p.Gln46Ter
NM_000100.4:c.136C>T MANE Select	NP_000091.1:p.Gln46Ter