Canonical Allele Identifier: CA2616166922
Gene: BACE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117289113T>C , CM000673.2:g.117289113T>C GRCh38
NC_000011.9:g.117159829T>C , CM000673.1:g.117159829T>C GRCh37
NC_000011.8:g.116665039T>C NCBI36
NG_029372.1:g.32144A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*453A>G MANE Select ENSP00000318585.6:n.*453A>G
ENST00000679585.1:n.2402A>G
ENST00000680271.1:n.1747A>G
ENST00000680681.1:c.*685A>G ENSP00000505419.1:n.*685A>G
ENST00000680800.1:n.1765A>G
ENST00000680971.1:c.*453A>G ENSP00000506107.1:n.*453A>G
ENST00000681714.1:n.1220A>G
ENST00000681753.1:n.1162A>G
ENST00000313005.10:c.*453A>G ENSP00000318585.6:n.*453A>G
ENST00000392937.10:c.*453A>G ENSP00000475405.1:n.*453A>G
ENST00000528053.5:c.*453A>G ENSP00000431848.1:n.*453A>G
NM_001207048.1:c.*453A>G NP_001193977.1:n.*453A>G
NM_001207049.1:c.*453A>G NP_001193978.1:n.*453A>G
NM_012104.4:c.*453A>G NP_036236.1:n.*453A>G
NM_138971.3:c.*453A>G NP_620427.1:n.*453A>G
NM_138972.3:c.*453A>G NP_620428.1:n.*453A>G
NM_138973.3:c.*453A>G NP_620429.1:n.*453A>G
NM_001207048.2:c.*453A>G NP_001193977.1:n.*453A>G
NM_001207049.2:c.*453A>G NP_001193978.1:n.*453A>G
NM_001207048.3:c.*453A>G NP_001193977.1:n.*453A>G
NM_001207049.3:c.*453A>G NP_001193978.1:n.*453A>G
NM_012104.6:c.*453A>G MANE Select NP_036236.1:n.*453A>G
NM_138971.4:c.*453A>G NP_620427.1:n.*453A>G
NM_138972.4:c.*453A>G NP_620428.1:n.*453A>G
NM_138973.4:c.*453A>G NP_620429.1:n.*453A>G