Canonical Allele Identifier: CA2616166920
Gene: BACE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117289111T>C , CM000673.2:g.117289111T>C GRCh38
NC_000011.9:g.117159827T>C , CM000673.1:g.117159827T>C GRCh37
NC_000011.8:g.116665037T>C NCBI36
NG_029372.1:g.32146A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*455A>G MANE Select ENSP00000318585.6:n.*455A>G
ENST00000679585.1:n.2404A>G
ENST00000680271.1:n.1749A>G
ENST00000680681.1:c.*687A>G ENSP00000505419.1:n.*687A>G
ENST00000680800.1:n.1767A>G
ENST00000680971.1:c.*455A>G ENSP00000506107.1:n.*455A>G
ENST00000681714.1:n.1222A>G
ENST00000681753.1:n.1164A>G
ENST00000313005.10:c.*455A>G ENSP00000318585.6:n.*455A>G
ENST00000392937.10:c.*455A>G ENSP00000475405.1:n.*455A>G
ENST00000528053.5:c.*455A>G ENSP00000431848.1:n.*455A>G
NM_001207048.1:c.*455A>G NP_001193977.1:n.*455A>G
NM_001207049.1:c.*455A>G NP_001193978.1:n.*455A>G
NM_012104.4:c.*455A>G NP_036236.1:n.*455A>G
NM_138971.3:c.*455A>G NP_620427.1:n.*455A>G
NM_138972.3:c.*455A>G NP_620428.1:n.*455A>G
NM_138973.3:c.*455A>G NP_620429.1:n.*455A>G
NM_001207048.2:c.*455A>G NP_001193977.1:n.*455A>G
NM_001207049.2:c.*455A>G NP_001193978.1:n.*455A>G
NM_001207048.3:c.*455A>G NP_001193977.1:n.*455A>G
NM_001207049.3:c.*455A>G NP_001193978.1:n.*455A>G
NM_012104.6:c.*455A>G MANE Select NP_036236.1:n.*455A>G
NM_138971.4:c.*455A>G NP_620427.1:n.*455A>G
NM_138972.4:c.*455A>G NP_620428.1:n.*455A>G
NM_138973.4:c.*455A>G NP_620429.1:n.*455A>G