Canonical Allele Identifier: CA2146485661
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219201T= , CM000676.2:g.73219201T= GRCh38
NC_000014.8:g.73685909T= , CM000676.1:g.73685909T= GRCh37
NC_000014.7:g.72755662T= NCBI36
NG_007386.2:g.87731T=

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1316T= MANE Select ENSP00000326366.5:p.Ile439=
ENST00000324501.9:c.1316T= ENSP00000326366.5:p.Ile439=
ENST00000357710.8:c.1304T= ENSP00000350342.4:p.Ile435=
ENST00000394164.5:c.1304T= ENSP00000377719.1:p.Ile435=
ENST00000406768.1:c.1040T= ENSP00000385948.1:p.Ile347=
ENST00000555386.5:n.1396T= ENSP00000450845.1:n.1396T=
ENST00000555867.1:n.681T=
ENST00000557511.5:n.1142T= ENSP00000451429.1:p.Ile381=
NM_000021.3:c.1316T= NP_000012.1:p.Ile439=
NM_007318.2:c.1304T= NP_015557.2:p.Ile435=
XM_005267864.1:c.1316T= XP_005267921.1:p.Ile439=
XM_005267866.1:c.1304T= XP_005267923.1:p.Ile435=
XM_011536971.1:c.1316T= XP_011535273.1:p.Ile439=
XM_011536972.1:c.1316T= XP_011535274.1:p.Ile439=
XM_011536973.1:c.1304T= XP_011535275.1:p.Ile435=
XM_011536974.1:c.1304T= XP_011535276.1:p.Ile435=
XM_005267864.3:c.1316T= XP_005267921.1:p.Ile439=
XM_005267866.2:c.1304T= XP_005267923.1:p.Ile435=
XM_011536972.2:c.1316T= XP_011535274.1:p.Ile439=
XM_011536973.2:c.1304T= XP_011535275.1:p.Ile435=
XM_011536974.2:c.1304T= XP_011535276.1:p.Ile435=
NM_000021.4:c.1316T= MANE Select NP_000012.1:p.Ile439=
NM_007318.3:c.1304T= NP_015557.2:p.Ile435=