Canonical Allele Identifier: CA390305953
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219134G>C , CM000676.2:g.73219134G>C GRCh38
NC_000014.8:g.73685842G>C , CM000676.1:g.73685842G>C GRCh37
NC_000014.7:g.72755595G>C NCBI36
NG_007386.2:g.87664G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1249G>C MANE Select ENSP00000326366.5:p.Gly417Arg
ENST00000324501.9:c.1249G>C ENSP00000326366.5:p.Gly417Arg
ENST00000357710.8:c.1237G>C ENSP00000350342.4:p.Gly413Arg
ENST00000394164.5:c.1237G>C ENSP00000377719.1:p.Gly413Arg
ENST00000406768.1:c.973G>C ENSP00000385948.1:p.Gly325Arg
ENST00000555386.5:n.1329G>C ENSP00000450845.1:n.1329G>C
ENST00000555867.1:n.614G>C
ENST00000557511.5:n.1075G>C ENSP00000451429.1:p.Gly359Arg
NM_000021.3:c.1249G>C NP_000012.1:p.Gly417Arg
NM_007318.2:c.1237G>C NP_015557.2:p.Gly413Arg
XM_005267864.1:c.1249G>C XP_005267921.1:p.Gly417Arg
XM_005267866.1:c.1237G>C XP_005267923.1:p.Gly413Arg
XM_011536971.1:c.1249G>C XP_011535273.1:p.Gly417Arg
XM_011536972.1:c.1249G>C XP_011535274.1:p.Gly417Arg
XM_011536973.1:c.1237G>C XP_011535275.1:p.Gly413Arg
XM_011536974.1:c.1237G>C XP_011535276.1:p.Gly413Arg
XM_005267864.3:c.1249G>C XP_005267921.1:p.Gly417Arg
XM_005267866.2:c.1237G>C XP_005267923.1:p.Gly413Arg
XM_011536972.2:c.1249G>C XP_011535274.1:p.Gly417Arg
XM_011536973.2:c.1237G>C XP_011535275.1:p.Gly413Arg
XM_011536974.2:c.1237G>C XP_011535276.1:p.Gly413Arg
NM_000021.4:c.1249G>C MANE Select NP_000012.1:p.Gly417Arg
NM_007318.3:c.1237G>C NP_015557.2:p.Gly413Arg