Canonical Allele Identifier: CA2002989927
Gene: BACE1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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