Canonical Allele Identifier: CA229358589

Gene: BACE1

Linked Data

• dbSNP Id: rs530519233
• gnomAD v3: 11-117288993-C-T
• MyVariant Identifiers: chr11:g.117159709C>T (hg19) ; chr11:g.117288993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117288993C>T , CM000673.2:g.117288993C>T	GRCh38
NC_000011.9:g.117159709C>T , CM000673.1:g.117159709C>T	GRCh37
NC_000011.8:g.116664919C>T	NCBI36
NG_029372.1:g.32264G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*573G>A MANE Select	ENSP00000318585.6:n.*573G>A
ENST00000679585.1:n.2522G>A
ENST00000680271.1:n.1867G>A
ENST00000680681.1:c.*805G>A	ENSP00000505419.1:n.*805G>A
ENST00000680800.1:n.1885G>A
ENST00000680971.1:c.*573G>A	ENSP00000506107.1:n.*573G>A
ENST00000313005.10:c.*573G>A	ENSP00000318585.6:n.*573G>A
ENST00000392937.10:c.*573G>A	ENSP00000475405.1:n.*573G>A
ENST00000528053.5:c.*573G>A	ENSP00000431848.1:n.*573G>A
NM_001207048.1:c.*573G>A	NP_001193977.1:n.*573G>A
NM_001207049.1:c.*573G>A	NP_001193978.1:n.*573G>A
NM_012104.4:c.*573G>A	NP_036236.1:n.*573G>A
NM_138971.3:c.*573G>A	NP_620427.1:n.*573G>A
NM_138972.3:c.*573G>A	NP_620428.1:n.*573G>A
NM_138973.3:c.*573G>A	NP_620429.1:n.*573G>A
NM_001207048.2:c.*573G>A	NP_001193977.1:n.*573G>A
NM_001207049.2:c.*573G>A	NP_001193978.1:n.*573G>A
NM_001207048.3:c.*573G>A	NP_001193977.1:n.*573G>A
NM_001207049.3:c.*573G>A	NP_001193978.1:n.*573G>A
NM_012104.6:c.*573G>A MANE Select	NP_036236.1:n.*573G>A
NM_138971.4:c.*573G>A	NP_620427.1:n.*573G>A
NM_138972.4:c.*573G>A	NP_620428.1:n.*573G>A
NM_138973.4:c.*573G>A	NP_620429.1:n.*573G>A