Canonical Allele Identifier: CA2146485563
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219128C= , CM000676.2:g.73219128C= GRCh38
NC_000014.8:g.73685836C= , CM000676.1:g.73685836C= GRCh37
NC_000014.7:g.72755589C= NCBI36
NG_007386.2:g.87658C=

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1249-6C= MANE Select ENSP00000326366.5:n.1249-6C=
ENST00000324501.9:c.1249-6C= ENSP00000326366.5:n.1249-6C=
ENST00000357710.8:c.1237-6C= ENSP00000350342.4:n.1237-6C=
ENST00000394164.5:c.1237-6C= ENSP00000377719.1:n.1237-6C=
ENST00000406768.1:c.973-6C= ENSP00000385948.1:n.973-6C=
ENST00000555386.5:n.1329-6C= ENSP00000450845.1:n.1329-6C=
ENST00000555867.1:n.614-6C=
ENST00000557511.5:n.1075-6C= ENSP00000451429.1:n.1075-6C=
NM_000021.3:c.1249-6C= NP_000012.1:n.1249-6C=
NM_007318.2:c.1237-6C= NP_015557.2:n.1237-6C=
XM_005267864.1:c.1249-6C= XP_005267921.1:n.1249-6C=
XM_005267866.1:c.1237-6C= XP_005267923.1:n.1237-6C=
XM_011536971.1:c.1249-6C= XP_011535273.1:n.1249-6C=
XM_011536972.1:c.1249-6C= XP_011535274.1:n.1249-6C=
XM_011536973.1:c.1237-6C= XP_011535275.1:n.1237-6C=
XM_011536974.1:c.1237-6C= XP_011535276.1:n.1237-6C=
XM_005267864.3:c.1249-6C= XP_005267921.1:n.1249-6C=
XM_005267866.2:c.1237-6C= XP_005267923.1:n.1237-6C=
XM_011536972.2:c.1249-6C= XP_011535274.1:n.1249-6C=
XM_011536973.2:c.1237-6C= XP_011535275.1:n.1237-6C=
XM_011536974.2:c.1237-6C= XP_011535276.1:n.1237-6C=
NM_000021.4:c.1249-6C= MANE Select NP_000012.1:n.1249-6C=
NM_007318.3:c.1237-6C= NP_015557.2:n.1237-6C=