Canonical Allele Identifier: CA2616166863

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289044-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289044C>A , CM000673.2:g.117289044C>A	GRCh38
NC_000011.9:g.117159760C>A , CM000673.1:g.117159760C>A	GRCh37
NC_000011.8:g.116664970C>A	NCBI36
NG_029372.1:g.32213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*522G>T MANE Select	ENSP00000318585.6:n.*522G>T
ENST00000679585.1:n.2471G>T
ENST00000680271.1:n.1816G>T
ENST00000680681.1:c.*754G>T	ENSP00000505419.1:n.*754G>T
ENST00000680800.1:n.1834G>T
ENST00000680971.1:c.*522G>T	ENSP00000506107.1:n.*522G>T
ENST00000681714.1:n.1289G>T
ENST00000681753.1:n.1231G>T
ENST00000313005.10:c.*522G>T	ENSP00000318585.6:n.*522G>T
ENST00000392937.10:c.*522G>T	ENSP00000475405.1:n.*522G>T
ENST00000528053.5:c.*522G>T	ENSP00000431848.1:n.*522G>T
NM_001207048.1:c.*522G>T	NP_001193977.1:n.*522G>T
NM_001207049.1:c.*522G>T	NP_001193978.1:n.*522G>T
NM_012104.4:c.*522G>T	NP_036236.1:n.*522G>T
NM_138971.3:c.*522G>T	NP_620427.1:n.*522G>T
NM_138972.3:c.*522G>T	NP_620428.1:n.*522G>T
NM_138973.3:c.*522G>T	NP_620429.1:n.*522G>T
NM_001207048.2:c.*522G>T	NP_001193977.1:n.*522G>T
NM_001207049.2:c.*522G>T	NP_001193978.1:n.*522G>T
NM_001207048.3:c.*522G>T	NP_001193977.1:n.*522G>T
NM_001207049.3:c.*522G>T	NP_001193978.1:n.*522G>T
NM_012104.6:c.*522G>T MANE Select	NP_036236.1:n.*522G>T
NM_138971.4:c.*522G>T	NP_620427.1:n.*522G>T
NM_138972.4:c.*522G>T	NP_620428.1:n.*522G>T
NM_138973.4:c.*522G>T	NP_620429.1:n.*522G>T