Canonical Allele Identifier: CA229358568
Gene: BACE1 HGNC NCBI

Linked Data

dbSNP Id: rs1048357588

Genomic Alleles

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

Transcript Alleles

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