Canonical Allele Identifier: CA2616166933

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289122-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289122C>G , CM000673.2:g.117289122C>G	GRCh38
NC_000011.9:g.117159838C>G , CM000673.1:g.117159838C>G	GRCh37
NC_000011.8:g.116665048C>G	NCBI36
NG_029372.1:g.32135G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*444G>C MANE Select	ENSP00000318585.6:n.*444G>C
ENST00000679585.1:n.2393G>C
ENST00000680271.1:n.1738G>C
ENST00000680681.1:c.*676G>C	ENSP00000505419.1:n.*676G>C
ENST00000680800.1:n.1756G>C
ENST00000680971.1:c.*444G>C	ENSP00000506107.1:n.*444G>C
ENST00000681714.1:n.1211G>C
ENST00000681753.1:n.1153G>C
ENST00000313005.10:c.*444G>C	ENSP00000318585.6:n.*444G>C
ENST00000392937.10:c.*444G>C	ENSP00000475405.1:n.*444G>C
ENST00000528053.5:c.*444G>C	ENSP00000431848.1:n.*444G>C
NM_001207048.1:c.*444G>C	NP_001193977.1:n.*444G>C
NM_001207049.1:c.*444G>C	NP_001193978.1:n.*444G>C
NM_012104.4:c.*444G>C	NP_036236.1:n.*444G>C
NM_138971.3:c.*444G>C	NP_620427.1:n.*444G>C
NM_138972.3:c.*444G>C	NP_620428.1:n.*444G>C
NM_138973.3:c.*444G>C	NP_620429.1:n.*444G>C
NM_001207048.2:c.*444G>C	NP_001193977.1:n.*444G>C
NM_001207049.2:c.*444G>C	NP_001193978.1:n.*444G>C
NM_001207048.3:c.*444G>C	NP_001193977.1:n.*444G>C
NM_001207049.3:c.*444G>C	NP_001193978.1:n.*444G>C
NM_012104.6:c.*444G>C MANE Select	NP_036236.1:n.*444G>C
NM_138971.4:c.*444G>C	NP_620427.1:n.*444G>C
NM_138972.4:c.*444G>C	NP_620428.1:n.*444G>C
NM_138973.4:c.*444G>C	NP_620429.1:n.*444G>C