Canonical Allele Identifier: CA390306091
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219202C>G , CM000676.2:g.73219202C>G GRCh38
NC_000014.8:g.73685910C>G , CM000676.1:g.73685910C>G GRCh37
NC_000014.7:g.72755663C>G NCBI36
NG_007386.2:g.87732C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1317C>G MANE Select ENSP00000326366.5:p.Ile439Met
ENST00000324501.9:c.1317C>G ENSP00000326366.5:p.Ile439Met
ENST00000357710.8:c.1305C>G ENSP00000350342.4:p.Ile435Met
ENST00000394164.5:c.1305C>G ENSP00000377719.1:p.Ile435Met
ENST00000406768.1:c.1041C>G ENSP00000385948.1:p.Ile347Met
ENST00000555386.5:n.1397C>G ENSP00000450845.1:n.1397C>G
ENST00000555867.1:n.682C>G
ENST00000557511.5:n.1143C>G ENSP00000451429.1:p.Ile381Met
NM_000021.3:c.1317C>G NP_000012.1:p.Ile439Met
NM_007318.2:c.1305C>G NP_015557.2:p.Ile435Met
XM_005267864.1:c.1317C>G XP_005267921.1:p.Ile439Met
XM_005267866.1:c.1305C>G XP_005267923.1:p.Ile435Met
XM_011536971.1:c.1317C>G XP_011535273.1:p.Ile439Met
XM_011536972.1:c.1317C>G XP_011535274.1:p.Ile439Met
XM_011536973.1:c.1305C>G XP_011535275.1:p.Ile435Met
XM_011536974.1:c.1305C>G XP_011535276.1:p.Ile435Met
XM_005267864.3:c.1317C>G XP_005267921.1:p.Ile439Met
XM_005267866.2:c.1305C>G XP_005267923.1:p.Ile435Met
XM_011536972.2:c.1317C>G XP_011535274.1:p.Ile439Met
XM_011536973.2:c.1305C>G XP_011535275.1:p.Ile435Met
XM_011536974.2:c.1305C>G XP_011535276.1:p.Ile435Met
NM_000021.4:c.1317C>G MANE Select NP_000012.1:p.Ile439Met
NM_007318.3:c.1305C>G NP_015557.2:p.Ile435Met