Canonical Allele Identifier: CA390305957
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219135G>T , CM000676.2:g.73219135G>T GRCh38
NC_000014.8:g.73685843G>T , CM000676.1:g.73685843G>T GRCh37
NC_000014.7:g.72755596G>T NCBI36
NG_007386.2:g.87665G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1250G>T MANE Select ENSP00000326366.5:p.Gly417Val
ENST00000324501.9:c.1250G>T ENSP00000326366.5:p.Gly417Val
ENST00000357710.8:c.1238G>T ENSP00000350342.4:p.Gly413Val
ENST00000394164.5:c.1238G>T ENSP00000377719.1:p.Gly413Val
ENST00000406768.1:c.974G>T ENSP00000385948.1:p.Gly325Val
ENST00000555386.5:n.1330G>T ENSP00000450845.1:n.1330G>T
ENST00000555867.1:n.615G>T
ENST00000557511.5:n.1076G>T ENSP00000451429.1:p.Gly359Val
NM_000021.3:c.1250G>T NP_000012.1:p.Gly417Val
NM_007318.2:c.1238G>T NP_015557.2:p.Gly413Val
XM_005267864.1:c.1250G>T XP_005267921.1:p.Gly417Val
XM_005267866.1:c.1238G>T XP_005267923.1:p.Gly413Val
XM_011536971.1:c.1250G>T XP_011535273.1:p.Gly417Val
XM_011536972.1:c.1250G>T XP_011535274.1:p.Gly417Val
XM_011536973.1:c.1238G>T XP_011535275.1:p.Gly413Val
XM_011536974.1:c.1238G>T XP_011535276.1:p.Gly413Val
XM_005267864.3:c.1250G>T XP_005267921.1:p.Gly417Val
XM_005267866.2:c.1238G>T XP_005267923.1:p.Gly413Val
XM_011536972.2:c.1250G>T XP_011535274.1:p.Gly417Val
XM_011536973.2:c.1238G>T XP_011535275.1:p.Gly413Val
XM_011536974.2:c.1238G>T XP_011535276.1:p.Gly413Val
NM_000021.4:c.1250G>T MANE Select NP_000012.1:p.Gly417Val
NM_007318.3:c.1238G>T NP_015557.2:p.Gly413Val