Canonical Allele Identifier: CA390303582
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73171023T>C , CM000676.2:g.73171023T>C GRCh38
NC_000014.8:g.73637731T>C , CM000676.1:g.73637731T>C GRCh37
NC_000014.7:g.72707484T>C NCBI36
NG_007386.2:g.39553T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.314T>C MANE Select ENSP00000326366.5:p.Phe105Ser
ENST00000324501.9:c.314T>C ENSP00000326366.5:p.Phe105Ser
ENST00000357710.8:c.302T>C ENSP00000350342.4:p.Phe101Ser
ENST00000394157.7:c.314T>C ENSP00000377712.3:p.Phe105Ser
ENST00000394164.5:c.302T>C ENSP00000377719.1:p.Phe101Ser
ENST00000406768.1:c.38T>C ENSP00000385948.1:p.Phe13Ser
ENST00000553719.5:c.302T>C ENSP00000451674.1:p.Phe101Ser
ENST00000553855.5:n.314T>C ENSP00000452242.1:p.Phe105Ser
ENST00000554131.5:c.314T>C ENSP00000451915.1:p.Phe105Ser
ENST00000555254.5:c.314T>C ENSP00000450652.1:p.Phe105Ser
ENST00000555386.5:n.302T>C ENSP00000450845.1:p.Phe101Ser
ENST00000557356.5:c.302T>C ENSP00000451498.1:p.Phe101Ser
ENST00000557511.5:n.314T>C ENSP00000451429.1:p.Phe105Ser
ENST00000559361.5:c.*258T>C ENSP00000454156.1:n.*258T>C
ENST00000560005.6:c.302T>C ENSP00000453466.1:p.Phe101Ser
NM_000021.3:c.314T>C NP_000012.1:p.Phe105Ser
NM_007318.2:c.302T>C NP_015557.2:p.Phe101Ser
XM_005267864.1:c.314T>C XP_005267921.1:p.Phe105Ser
XM_005267866.1:c.302T>C XP_005267923.1:p.Phe101Ser
XM_011536971.1:c.314T>C XP_011535273.1:p.Phe105Ser
XM_011536972.1:c.314T>C XP_011535274.1:p.Phe105Ser
XM_011536973.1:c.302T>C XP_011535275.1:p.Phe101Ser
XM_011536974.1:c.302T>C XP_011535276.1:p.Phe101Ser
XM_005267864.3:c.314T>C XP_005267921.1:p.Phe105Ser
XM_005267866.2:c.302T>C XP_005267923.1:p.Phe101Ser
XM_011536972.2:c.314T>C XP_011535274.1:p.Phe105Ser
XM_011536973.2:c.302T>C XP_011535275.1:p.Phe101Ser
XM_011536974.2:c.302T>C XP_011535276.1:p.Phe101Ser
NM_000021.4:c.314T>C MANE Select NP_000012.1:p.Phe105Ser
NM_007318.3:c.302T>C NP_015557.2:p.Phe101Ser