Canonical Allele Identifier: CA2002974331
Gene: BACE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117288978T= , CM000673.2:g.117288978T= GRCh38
NC_000011.9:g.117159694T= , CM000673.1:g.117159694T= GRCh37
NC_000011.8:g.116664904T= NCBI36
NG_029372.1:g.32279A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*588A= MANE Select ENSP00000318585.6:n.*588A=
ENST00000679585.1:n.2537A=
ENST00000680271.1:n.1882A=
ENST00000680681.1:c.*820A= ENSP00000505419.1:n.*820A=
ENST00000680800.1:n.1900A=
ENST00000680971.1:c.*588A= ENSP00000506107.1:n.*588A=
ENST00000313005.10:c.*588A= ENSP00000318585.6:n.*588A=
ENST00000392937.10:c.*588A= ENSP00000475405.1:n.*588A=
ENST00000528053.5:c.*588A= ENSP00000431848.1:n.*588A=
NM_001207048.1:c.*588A= NP_001193977.1:n.*588A=
NM_001207049.1:c.*588A= NP_001193978.1:n.*588A=
NM_012104.4:c.*588A= NP_036236.1:n.*588A=
NM_138971.3:c.*588A= NP_620427.1:n.*588A=
NM_138972.3:c.*588A= NP_620428.1:n.*588A=
NM_138973.3:c.*588A= NP_620429.1:n.*588A=
NM_001207048.2:c.*588A= NP_001193977.1:n.*588A=
NM_001207049.2:c.*588A= NP_001193978.1:n.*588A=
NM_001207048.3:c.*588A= NP_001193977.1:n.*588A=
NM_001207049.3:c.*588A= NP_001193978.1:n.*588A=
NM_012104.6:c.*588A= MANE Select NP_036236.1:n.*588A=
NM_138971.4:c.*588A= NP_620427.1:n.*588A=
NM_138972.4:c.*588A= NP_620428.1:n.*588A=
NM_138973.4:c.*588A= NP_620429.1:n.*588A=