Canonical Allele Identifier: CA672260295

Gene: BACE1

Linked Data

• dbSNP Id: rs1309098404
• gnomAD v4: 11-117289072-C-T
• MyVariant Identifiers: chr11:g.117159788C>T (hg19) ; chr11:g.117289072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289072C>T , CM000673.2:g.117289072C>T	GRCh38
NC_000011.9:g.117159788C>T , CM000673.1:g.117159788C>T	GRCh37
NC_000011.8:g.116664998C>T	NCBI36
NG_029372.1:g.32185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*494G>A MANE Select	ENSP00000318585.6:n.*494G>A
ENST00000679585.1:n.2443G>A
ENST00000680271.1:n.1788G>A
ENST00000680681.1:c.*726G>A	ENSP00000505419.1:n.*726G>A
ENST00000680800.1:n.1806G>A
ENST00000680971.1:c.*494G>A	ENSP00000506107.1:n.*494G>A
ENST00000681714.1:n.1261G>A
ENST00000681753.1:n.1203G>A
ENST00000313005.10:c.*494G>A	ENSP00000318585.6:n.*494G>A
ENST00000392937.10:c.*494G>A	ENSP00000475405.1:n.*494G>A
ENST00000528053.5:c.*494G>A	ENSP00000431848.1:n.*494G>A
NM_001207048.1:c.*494G>A	NP_001193977.1:n.*494G>A
NM_001207049.1:c.*494G>A	NP_001193978.1:n.*494G>A
NM_012104.4:c.*494G>A	NP_036236.1:n.*494G>A
NM_138971.3:c.*494G>A	NP_620427.1:n.*494G>A
NM_138972.3:c.*494G>A	NP_620428.1:n.*494G>A
NM_138973.3:c.*494G>A	NP_620429.1:n.*494G>A
NM_001207048.2:c.*494G>A	NP_001193977.1:n.*494G>A
NM_001207049.2:c.*494G>A	NP_001193978.1:n.*494G>A
NM_001207048.3:c.*494G>A	NP_001193977.1:n.*494G>A
NM_001207049.3:c.*494G>A	NP_001193978.1:n.*494G>A
NM_012104.6:c.*494G>A MANE Select	NP_036236.1:n.*494G>A
NM_138971.4:c.*494G>A	NP_620427.1:n.*494G>A
NM_138972.4:c.*494G>A	NP_620428.1:n.*494G>A
NM_138973.4:c.*494G>A	NP_620429.1:n.*494G>A