Canonical Allele Identifier: CA390304700
Gene: PSEN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.73640289C>G (hg19) chr14:g.73173581C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73173581C>G , CM000676.2:g.73173581C>G GRCh38
NC_000014.8:g.73640289C>G , CM000676.1:g.73640289C>G GRCh37
NC_000014.7:g.72710042C>G NCBI36
NG_007386.2:g.42111C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.354C>G MANE Select ENSP00000326366.5:p.Phe118Leu
ENST00000324501.9:c.354C>G ENSP00000326366.5:p.Phe118Leu
ENST00000357710.8:c.342C>G ENSP00000350342.4:p.Phe114Leu
ENST00000394157.7:c.354C>G ENSP00000377712.3:p.Phe118Leu
ENST00000394164.5:c.342C>G ENSP00000377719.1:p.Phe114Leu
ENST00000406768.1:c.78C>G ENSP00000385948.1:p.Phe26Leu
ENST00000553719.5:c.342C>G ENSP00000451674.1:p.Phe114Leu
ENST00000553855.5:n.354C>G ENSP00000452242.1:p.Phe118Leu
ENST00000555254.5:c.354C>G ENSP00000450652.1:p.Phe118Leu
ENST00000555386.5:n.342C>G ENSP00000450845.1:p.Phe114Leu
ENST00000557356.5:c.342C>G ENSP00000451498.1:p.Phe114Leu
ENST00000557511.5:n.354C>G ENSP00000451429.1:p.Phe118Leu
ENST00000559361.5:c.*298C>G ENSP00000454156.1:n.*298C>G
NM_000021.3:c.354C>G NP_000012.1:p.Phe118Leu
NM_007318.2:c.342C>G NP_015557.2:p.Phe114Leu
XM_005267864.1:c.354C>G XP_005267921.1:p.Phe118Leu
XM_005267866.1:c.342C>G XP_005267923.1:p.Phe114Leu
XM_011536971.1:c.354C>G XP_011535273.1:p.Phe118Leu
XM_011536972.1:c.354C>G XP_011535274.1:p.Phe118Leu
XM_011536973.1:c.342C>G XP_011535275.1:p.Phe114Leu
XM_011536974.1:c.342C>G XP_011535276.1:p.Phe114Leu
XM_005267864.3:c.354C>G XP_005267921.1:p.Phe118Leu
XM_005267866.2:c.342C>G XP_005267923.1:p.Phe114Leu
XM_011536972.2:c.354C>G XP_011535274.1:p.Phe118Leu
XM_011536973.2:c.342C>G XP_011535275.1:p.Phe114Leu
XM_011536974.2:c.342C>G XP_011535276.1:p.Phe114Leu
NM_000021.4:c.354C>G MANE Select NP_000012.1:p.Phe118Leu
NM_007318.3:c.342C>G NP_015557.2:p.Phe114Leu
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