Canonical Allele Identifier: CA13493256
Gene: BACE1 HGNC NCBI
gnomAD v2:
11:117159878 A / T
gnomAD v3:
11:117289162 A / T
gnomAD v4:
chr11-117289162-A-T
Joint Max Group AF 0.11879452 (AFR)
Genomes Max Group AF 0.11896942 (NFE)
Exomes Max Group AF 0.11408123 (AMR)
dbSNP:
535860
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117289162A>T , CM000673.2:g.117289162A>T GRCh38
NC_000011.9:g.117159878A>T , CM000673.1:g.117159878A>T GRCh37
NC_000011.8:g.116665088A>T NCBI36
NG_029372.1:g.32095T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*404T>A MANE Select ENSP00000318585.6:n.*404T>A
ENST00000679585.1:n.2353T>A
ENST00000680271.1:n.1698T>A
ENST00000680681.1:c.*636T>A ENSP00000505419.1:n.*636T>A
ENST00000680800.1:n.1716T>A
ENST00000680971.1:c.*404T>A ENSP00000506107.1:n.*404T>A
ENST00000681714.1:n.1171T>A
ENST00000681753.1:n.1113T>A
ENST00000313005.10:c.*404T>A ENSP00000318585.6:n.*404T>A
ENST00000392937.10:c.*404T>A ENSP00000475405.1:n.*404T>A
ENST00000528053.5:c.*404T>A ENSP00000431848.1:n.*404T>A
NM_001207048.1:c.*404T>A NP_001193977.1:n.*404T>A
NM_001207049.1:c.*404T>A NP_001193978.1:n.*404T>A
NM_012104.4:c.*404T>A NP_036236.1:n.*404T>A
NM_138971.3:c.*404T>A NP_620427.1:n.*404T>A
NM_138972.3:c.*404T>A NP_620428.1:n.*404T>A
NM_138973.3:c.*404T>A NP_620429.1:n.*404T>A
NM_001207048.2:c.*404T>A NP_001193977.1:n.*404T>A
NM_001207049.2:c.*404T>A NP_001193978.1:n.*404T>A
NM_001207048.3:c.*404T>A NP_001193977.1:n.*404T>A
NM_001207049.3:c.*404T>A NP_001193978.1:n.*404T>A
NM_012104.6:c.*404T>A MANE Select NP_036236.1:n.*404T>A
NM_138971.4:c.*404T>A NP_620427.1:n.*404T>A
NM_138972.4:c.*404T>A NP_620428.1:n.*404T>A
NM_138973.4:c.*404T>A NP_620429.1:n.*404T>A
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