Canonical Allele Identifier: CA2002989926
Gene: BACE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117311992T= , CM000673.2:g.117311992T= GRCh38
NC_000011.9:g.117182708T= , CM000673.1:g.117182708T= GRCh37
NC_000011.8:g.116687918T= NCBI36
NG_029372.1:g.9265A=

Transcript Alleles

HGVS Amino-acid Change
NM_012104.6:c.261+3543A= MANE Select NP_036236.1:n.261+3543A=
ENST00000313005.11:c.261+3543A= MANE Select ENSP00000318585.6:n.261+3543A=
NM_012104.4:c.261+3543A= NP_036236.1:n.261+3543A=
NM_138971.3:c.261+3543A= NP_620427.1:n.261+3543A=
NM_138971.4:c.261+3543A= NP_620427.1:n.261+3543A=
NM_138972.3:c.261+3543A= NP_620428.1:n.261+3543A=
NM_138972.4:c.261+3543A= NP_620428.1:n.261+3543A=
NM_138973.3:c.261+3543A= NP_620429.1:n.261+3543A=
NM_138973.4:c.261+3543A= NP_620429.1:n.261+3543A=
ENST00000313005.10:c.261+3543A= ENSP00000318585.6:n.261+3543A=
ENST00000428381.6:c.261+3543A= ENSP00000402228.2:n.261+3543A=
ENST00000445823.6:c.261+3543A= ENSP00000403685.2:n.261+3543A=
ENST00000513780.5:c.261+3543A= ENSP00000424536.1:n.261+3543A=
ENST00000514464.1:n.261+3543A=
ENST00000514464.2:c.261+3543A= ENSP00000505118.1:n.261+3543A=
ENST00000528053.5:c.261+3543A= ENSP00000431848.1:n.261+3543A=