Canonical Allele Identifier: CA229358614

Gene: BACE1

Linked Data

• dbSNP Id: rs998764812
• gnomAD v3: 11-117289031-T-C
• gnomAD v4: 11-117289031-T-C
• MyVariant Identifiers: chr11:g.117159747T>C (hg19) ; chr11:g.117289031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289031T>C , CM000673.2:g.117289031T>C	GRCh38
NC_000011.9:g.117159747T>C , CM000673.1:g.117159747T>C	GRCh37
NC_000011.8:g.116664957T>C	NCBI36
NG_029372.1:g.32226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*535A>G MANE Select	ENSP00000318585.6:n.*535A>G
ENST00000679585.1:n.2484A>G
ENST00000680271.1:n.1829A>G
ENST00000680681.1:c.*767A>G	ENSP00000505419.1:n.*767A>G
ENST00000680800.1:n.1847A>G
ENST00000680971.1:c.*535A>G	ENSP00000506107.1:n.*535A>G
ENST00000681714.1:n.1302A>G
ENST00000681753.1:n.1244A>G
ENST00000313005.10:c.*535A>G	ENSP00000318585.6:n.*535A>G
ENST00000392937.10:c.*535A>G	ENSP00000475405.1:n.*535A>G
ENST00000528053.5:c.*535A>G	ENSP00000431848.1:n.*535A>G
NM_001207048.1:c.*535A>G	NP_001193977.1:n.*535A>G
NM_001207049.1:c.*535A>G	NP_001193978.1:n.*535A>G
NM_012104.4:c.*535A>G	NP_036236.1:n.*535A>G
NM_138971.3:c.*535A>G	NP_620427.1:n.*535A>G
NM_138972.3:c.*535A>G	NP_620428.1:n.*535A>G
NM_138973.3:c.*535A>G	NP_620429.1:n.*535A>G
NM_001207048.2:c.*535A>G	NP_001193977.1:n.*535A>G
NM_001207049.2:c.*535A>G	NP_001193978.1:n.*535A>G
NM_001207048.3:c.*535A>G	NP_001193977.1:n.*535A>G
NM_001207049.3:c.*535A>G	NP_001193978.1:n.*535A>G
NM_012104.6:c.*535A>G MANE Select	NP_036236.1:n.*535A>G
NM_138971.4:c.*535A>G	NP_620427.1:n.*535A>G
NM_138972.4:c.*535A>G	NP_620428.1:n.*535A>G
NM_138973.4:c.*535A>G	NP_620429.1:n.*535A>G