Canonical Allele Identifier: CA13980412
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs177415

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211255T>G , CM000676.2:g.73211255T>G GRCh38
NC_000014.8:g.73677963T>G , CM000676.1:g.73677963T>G GRCh37
NC_000014.7:g.72747716T>G NCBI36
NG_007386.2:g.79785T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.956-514T>G MANE Select ENSP00000326366.5:p.=
ENST00000324501.9:c.956-514T>G ENSP00000326366.5:p.=
ENST00000357710.8:c.944-514T>G ENSP00000350342.4:p.=
ENST00000394164.5:c.944-514T>G ENSP00000377719.1:p.=
ENST00000406768.1:c.680-514T>G ENSP00000385948.1:p.=
ENST00000553855.5:n.1048-514T>G ENSP00000452242.1:p.=
ENST00000554995.1:n.508-514T>G
ENST00000555386.5:n.1036-514T>G ENSP00000450845.1:p.=
ENST00000555867.1:n.321-514T>G
ENST00000557511.5:n.955+4783T>G ENSP00000451429.1:p.=
NM_000021.3:c.956-514T>G NP_000012.1:p.=
NM_007318.2:c.944-514T>G NP_015557.2:p.=
XM_005267864.1:c.956-514T>G XP_005267921.1:p.=
XM_005267866.1:c.944-514T>G XP_005267923.1:p.=
XM_011536971.1:c.956-514T>G XP_011535273.1:p.=
XM_011536972.1:c.956-514T>G XP_011535274.1:p.=
XM_011536973.1:c.944-514T>G XP_011535275.1:p.=
XM_011536974.1:c.944-514T>G XP_011535276.1:p.=
XM_005267864.3:c.956-514T>G XP_005267921.1:p.=
XM_005267866.2:c.944-514T>G XP_005267923.1:p.=
XM_011536972.2:c.956-514T>G XP_011535274.1:p.=
XM_011536973.2:c.944-514T>G XP_011535275.1:p.=
XM_011536974.2:c.944-514T>G XP_011535276.1:p.=
NM_000021.4:c.956-514T>G MANE Select NP_000012.1:p.=
NM_007318.3:c.944-514T>G NP_015557.2:p.=