Canonical Allele Identifier: CA2146470971
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73173576C= , CM000676.2:g.73173576C= GRCh38
NC_000014.8:g.73640284C= , CM000676.1:g.73640284C= GRCh37
NC_000014.7:g.72710037C= NCBI36
NG_007386.2:g.42106C=

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.349C= MANE Select ENSP00000326366.5:p.Pro117=
ENST00000324501.9:c.349C= ENSP00000326366.5:p.Pro117=
ENST00000357710.8:c.337C= ENSP00000350342.4:p.Pro113=
ENST00000394157.7:c.349C= ENSP00000377712.3:p.Pro117=
ENST00000394164.5:c.337C= ENSP00000377719.1:p.Pro113=
ENST00000406768.1:c.73C= ENSP00000385948.1:p.Pro25=
ENST00000553719.5:c.337C= ENSP00000451674.1:p.Pro113=
ENST00000553855.5:n.349C= ENSP00000452242.1:p.Pro117=
ENST00000555254.5:c.349C= ENSP00000450652.1:p.Pro117=
ENST00000555386.5:n.337C= ENSP00000450845.1:p.Pro113=
ENST00000557356.5:c.337C= ENSP00000451498.1:p.Pro113=
ENST00000557511.5:n.349C= ENSP00000451429.1:p.Pro117=
ENST00000559361.5:c.*293C= ENSP00000454156.1:n.*293C=
NM_000021.3:c.349C= NP_000012.1:p.Pro117=
NM_007318.2:c.337C= NP_015557.2:p.Pro113=
XM_005267864.1:c.349C= XP_005267921.1:p.Pro117=
XM_005267866.1:c.337C= XP_005267923.1:p.Pro113=
XM_011536971.1:c.349C= XP_011535273.1:p.Pro117=
XM_011536972.1:c.349C= XP_011535274.1:p.Pro117=
XM_011536973.1:c.337C= XP_011535275.1:p.Pro113=
XM_011536974.1:c.337C= XP_011535276.1:p.Pro113=
XM_005267864.3:c.349C= XP_005267921.1:p.Pro117=
XM_005267866.2:c.337C= XP_005267923.1:p.Pro113=
XM_011536972.2:c.349C= XP_011535274.1:p.Pro117=
XM_011536973.2:c.337C= XP_011535275.1:p.Pro113=
XM_011536974.2:c.337C= XP_011535276.1:p.Pro113=
NM_000021.4:c.349C= MANE Select NP_000012.1:p.Pro117=
NM_007318.3:c.337C= NP_015557.2:p.Pro113=