Canonical Allele Identifier: CA15817669
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs165934

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73206123C>A , CM000676.2:g.73206123C>A GRCh38
NC_000014.8:g.73672831C>A , CM000676.1:g.73672831C>A GRCh37
NC_000014.7:g.72742584C>A NCBI36
NG_007386.2:g.74653C>A

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.869-263C>A VV NP_000012.1:p.=
NM_007318.2:c.857-263C>A VV NP_015557.2:p.=
XM_005267864.1:c.869-263C>A XP_005267921.1:p.=
XM_005267866.1:c.857-263C>A XP_005267923.1:p.=
XM_011536971.1:c.869-263C>A XP_011535273.1:p.=
XM_011536972.1:c.869-263C>A XP_011535274.1:p.=
XM_011536973.1:c.857-263C>A XP_011535275.1:p.=
XM_011536974.1:c.857-263C>A XP_011535276.1:p.=
XM_005267864.3:c.869-263C>A XP_005267921.1:p.=
XM_005267866.2:c.857-263C>A XP_005267923.1:p.=
XM_011536972.2:c.869-263C>A XP_011535274.1:p.=
XM_011536973.2:c.857-263C>A XP_011535275.1:p.=
XM_011536974.2:c.857-263C>A XP_011535276.1:p.=
NM_000021.4:c.869-263C>A VV MANE Preferred NP_000012.1:p.=
ENST00000324501.9:c.869-263C>A ENSP00000326366.5:p.=
ENST00000357710.8:c.857-263C>A ENSP00000350342.4:p.=
ENST00000394164.5:c.857-263C>A ENSP00000377719.1:p.=
ENST00000406768.1:c.593-263C>A ENSP00000385948.1:p.=
ENST00000553855.5:n.869-263C>A ENSP00000452242.1:p.=
ENST00000554995.1:n.421-263C>A
ENST00000555386.5:n.857-263C>A ENSP00000450845.1:p.=
ENST00000557511.5:n.869-263C>A ENSP00000451429.1:p.=