Canonical Allele Identifier: CA2616166815

Gene: BACE1

Linked Data

• gnomAD v4: 11-117288987-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117288987C>A , CM000673.2:g.117288987C>A	GRCh38
NC_000011.9:g.117159703C>A , CM000673.1:g.117159703C>A	GRCh37
NC_000011.8:g.116664913C>A	NCBI36
NG_029372.1:g.32270G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*579G>T MANE Select	ENSP00000318585.6:n.*579G>T
ENST00000679585.1:n.2528G>T
ENST00000680271.1:n.1873G>T
ENST00000680681.1:c.*811G>T	ENSP00000505419.1:n.*811G>T
ENST00000680800.1:n.1891G>T
ENST00000680971.1:c.*579G>T	ENSP00000506107.1:n.*579G>T
ENST00000313005.10:c.*579G>T	ENSP00000318585.6:n.*579G>T
ENST00000392937.10:c.*579G>T	ENSP00000475405.1:n.*579G>T
ENST00000528053.5:c.*579G>T	ENSP00000431848.1:n.*579G>T
NM_001207048.1:c.*579G>T	NP_001193977.1:n.*579G>T
NM_001207049.1:c.*579G>T	NP_001193978.1:n.*579G>T
NM_012104.4:c.*579G>T	NP_036236.1:n.*579G>T
NM_138971.3:c.*579G>T	NP_620427.1:n.*579G>T
NM_138972.3:c.*579G>T	NP_620428.1:n.*579G>T
NM_138973.3:c.*579G>T	NP_620429.1:n.*579G>T
NM_001207048.2:c.*579G>T	NP_001193977.1:n.*579G>T
NM_001207049.2:c.*579G>T	NP_001193978.1:n.*579G>T
NM_001207048.3:c.*579G>T	NP_001193977.1:n.*579G>T
NM_001207049.3:c.*579G>T	NP_001193978.1:n.*579G>T
NM_012104.6:c.*579G>T MANE Select	NP_036236.1:n.*579G>T
NM_138971.4:c.*579G>T	NP_620427.1:n.*579G>T
NM_138972.4:c.*579G>T	NP_620428.1:n.*579G>T
NM_138973.4:c.*579G>T	NP_620429.1:n.*579G>T