Canonical Allele Identifier: CA2616166833

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289005-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289005A>C , CM000673.2:g.117289005A>C	GRCh38
NC_000011.9:g.117159721A>C , CM000673.1:g.117159721A>C	GRCh37
NC_000011.8:g.116664931A>C	NCBI36
NG_029372.1:g.32252T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*561T>G MANE Select	ENSP00000318585.6:n.*561T>G
ENST00000679585.1:n.2510T>G
ENST00000680271.1:n.1855T>G
ENST00000680681.1:c.*793T>G	ENSP00000505419.1:n.*793T>G
ENST00000680800.1:n.1873T>G
ENST00000680971.1:c.*561T>G	ENSP00000506107.1:n.*561T>G
ENST00000313005.10:c.*561T>G	ENSP00000318585.6:n.*561T>G
ENST00000392937.10:c.*561T>G	ENSP00000475405.1:n.*561T>G
ENST00000528053.5:c.*561T>G	ENSP00000431848.1:n.*561T>G
NM_001207048.1:c.*561T>G	NP_001193977.1:n.*561T>G
NM_001207049.1:c.*561T>G	NP_001193978.1:n.*561T>G
NM_012104.4:c.*561T>G	NP_036236.1:n.*561T>G
NM_138971.3:c.*561T>G	NP_620427.1:n.*561T>G
NM_138972.3:c.*561T>G	NP_620428.1:n.*561T>G
NM_138973.3:c.*561T>G	NP_620429.1:n.*561T>G
NM_001207048.2:c.*561T>G	NP_001193977.1:n.*561T>G
NM_001207049.2:c.*561T>G	NP_001193978.1:n.*561T>G
NM_001207048.3:c.*561T>G	NP_001193977.1:n.*561T>G
NM_001207049.3:c.*561T>G	NP_001193978.1:n.*561T>G
NM_012104.6:c.*561T>G MANE Select	NP_036236.1:n.*561T>G
NM_138971.4:c.*561T>G	NP_620427.1:n.*561T>G
NM_138972.4:c.*561T>G	NP_620428.1:n.*561T>G
NM_138973.4:c.*561T>G	NP_620429.1:n.*561T>G