Canonical Allele Identifier: CA390302529
Gene: PSEN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.73637531C>G (hg19) chr14:g.73170823C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73170823C>G , CM000676.2:g.73170823C>G GRCh38
NC_000014.8:g.73637531C>G , CM000676.1:g.73637531C>G GRCh37
NC_000014.7:g.72707284C>G NCBI36
NG_007386.2:g.39353C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.114C>G MANE Select ENSP00000326366.5:p.His38Gln
ENST00000324501.9:c.114C>G ENSP00000326366.5:p.His38Gln
ENST00000357710.8:c.102C>G ENSP00000350342.4:p.His34Gln
ENST00000394157.7:c.114C>G ENSP00000377712.3:p.His38Gln
ENST00000394164.5:c.102C>G ENSP00000377719.1:p.His34Gln
ENST00000406768.1:c.-163C>G ENSP00000385948.1:n.-163C>G
ENST00000553447.6:n.511C>G
ENST00000553599.5:c.102C>G ENSP00000452477.1:p.His34Gln
ENST00000553719.5:c.102C>G ENSP00000451674.1:p.His34Gln
ENST00000553855.5:c.114C>G ENSP00000452242.1:p.His38Gln
ENST00000554131.5:c.114C>G ENSP00000451915.1:p.His38Gln
ENST00000555254.5:c.114C>G ENSP00000450652.1:p.His38Gln
ENST00000555386.5:c.102C>G ENSP00000450845.1:p.His34Gln
ENST00000556066.1:c.102C>G ENSP00000452267.1:p.His34Gln
ENST00000556533.5:c.102C>G ENSP00000452128.1:p.His34Gln
ENST00000556864.5:c.102C>G ENSP00000451588.1:p.His34Gln
ENST00000556951.5:c.102C>G ENSP00000450551.1:p.His34Gln
ENST00000557037.5:c.102C>G ENSP00000451347.1:p.His34Gln
ENST00000557293.5:c.114C>G ENSP00000451880.1:p.His38Gln
ENST00000557356.5:c.102C>G ENSP00000451498.1:p.His34Gln
ENST00000557511.5:c.114C>G ENSP00000451429.1:p.His38Gln
ENST00000559361.5:c.*58C>G ENSP00000454156.1:n.*58C>G
ENST00000560005.6:c.102C>G ENSP00000453466.1:p.His34Gln
NM_000021.3:c.114C>G NP_000012.1:p.His38Gln
NM_007318.2:c.102C>G NP_015557.2:p.His34Gln
XM_005267864.1:c.114C>G XP_005267921.1:p.His38Gln
XM_005267866.1:c.102C>G XP_005267923.1:p.His34Gln
XM_011536971.1:c.114C>G XP_011535273.1:p.His38Gln
XM_011536972.1:c.114C>G XP_011535274.1:p.His38Gln
XM_011536973.1:c.102C>G XP_011535275.1:p.His34Gln
XM_011536974.1:c.102C>G XP_011535276.1:p.His34Gln
XM_005267864.3:c.114C>G XP_005267921.1:p.His38Gln
XM_005267866.2:c.102C>G XP_005267923.1:p.His34Gln
XM_011536972.2:c.114C>G XP_011535274.1:p.His38Gln
XM_011536973.2:c.102C>G XP_011535275.1:p.His34Gln
XM_011536974.2:c.102C>G XP_011535276.1:p.His34Gln
NM_000021.4:c.114C>G MANE Select NP_000012.1:p.His38Gln
NM_007318.3:c.102C>G NP_015557.2:p.His34Gln
Search 100 bp 5'
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