Canonical Allele Identifier: CA942660448

Gene: BACE1

Linked Data

• dbSNP Id: rs2034341003
• gnomAD v3: 11-117289125-T-C
• gnomAD v4: 11-117289125-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289125T>C , CM000673.2:g.117289125T>C	GRCh38
NC_000011.9:g.117159841T>C , CM000673.1:g.117159841T>C	GRCh37
NC_000011.8:g.116665051T>C	NCBI36
NG_029372.1:g.32132A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*441A>G MANE Select	ENSP00000318585.6:n.*441A>G
ENST00000679585.1:n.2390A>G
ENST00000680271.1:n.1735A>G
ENST00000680681.1:c.*673A>G	ENSP00000505419.1:n.*673A>G
ENST00000680800.1:n.1753A>G
ENST00000680971.1:c.*441A>G	ENSP00000506107.1:n.*441A>G
ENST00000681714.1:n.1208A>G
ENST00000681753.1:n.1150A>G
ENST00000313005.10:c.*441A>G	ENSP00000318585.6:n.*441A>G
ENST00000392937.10:c.*441A>G	ENSP00000475405.1:n.*441A>G
ENST00000528053.5:c.*441A>G	ENSP00000431848.1:n.*441A>G
NM_001207048.1:c.*441A>G	NP_001193977.1:n.*441A>G
NM_001207049.1:c.*441A>G	NP_001193978.1:n.*441A>G
NM_012104.4:c.*441A>G	NP_036236.1:n.*441A>G
NM_138971.3:c.*441A>G	NP_620427.1:n.*441A>G
NM_138972.3:c.*441A>G	NP_620428.1:n.*441A>G
NM_138973.3:c.*441A>G	NP_620429.1:n.*441A>G
NM_001207048.2:c.*441A>G	NP_001193977.1:n.*441A>G
NM_001207049.2:c.*441A>G	NP_001193978.1:n.*441A>G
NM_001207048.3:c.*441A>G	NP_001193977.1:n.*441A>G
NM_001207049.3:c.*441A>G	NP_001193978.1:n.*441A>G
NM_012104.6:c.*441A>G MANE Select	NP_036236.1:n.*441A>G
NM_138971.4:c.*441A>G	NP_620427.1:n.*441A>G
NM_138972.4:c.*441A>G	NP_620428.1:n.*441A>G
NM_138973.4:c.*441A>G	NP_620429.1:n.*441A>G