Canonical Allele Identifier: CA13450002

Gene: BACE1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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