Canonical Allele Identifier: CA942660439

Gene: BACE1

Linked Data

• dbSNP Id: rs2034340128
• gnomAD v3: 11-117289079-T-G
• gnomAD v4: 11-117289079-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289079T>G , CM000673.2:g.117289079T>G	GRCh38
NC_000011.9:g.117159795T>G , CM000673.1:g.117159795T>G	GRCh37
NC_000011.8:g.116665005T>G	NCBI36
NG_029372.1:g.32178A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*487A>C MANE Select	ENSP00000318585.6:n.*487A>C
ENST00000679585.1:n.2436A>C
ENST00000680271.1:n.1781A>C
ENST00000680681.1:c.*719A>C	ENSP00000505419.1:n.*719A>C
ENST00000680800.1:n.1799A>C
ENST00000680971.1:c.*487A>C	ENSP00000506107.1:n.*487A>C
ENST00000681714.1:n.1254A>C
ENST00000681753.1:n.1196A>C
ENST00000313005.10:c.*487A>C	ENSP00000318585.6:n.*487A>C
ENST00000392937.10:c.*487A>C	ENSP00000475405.1:n.*487A>C
ENST00000528053.5:c.*487A>C	ENSP00000431848.1:n.*487A>C
NM_001207048.1:c.*487A>C	NP_001193977.1:n.*487A>C
NM_001207049.1:c.*487A>C	NP_001193978.1:n.*487A>C
NM_012104.4:c.*487A>C	NP_036236.1:n.*487A>C
NM_138971.3:c.*487A>C	NP_620427.1:n.*487A>C
NM_138972.3:c.*487A>C	NP_620428.1:n.*487A>C
NM_138973.3:c.*487A>C	NP_620429.1:n.*487A>C
NM_001207048.2:c.*487A>C	NP_001193977.1:n.*487A>C
NM_001207049.2:c.*487A>C	NP_001193978.1:n.*487A>C
NM_001207048.3:c.*487A>C	NP_001193977.1:n.*487A>C
NM_001207049.3:c.*487A>C	NP_001193978.1:n.*487A>C
NM_012104.6:c.*487A>C MANE Select	NP_036236.1:n.*487A>C
NM_138971.4:c.*487A>C	NP_620427.1:n.*487A>C
NM_138972.4:c.*487A>C	NP_620428.1:n.*487A>C
NM_138973.4:c.*487A>C	NP_620429.1:n.*487A>C