Canonical Allele Identifier: CA390305049

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73673173T>A (hg19) ; chr14:g.73206465T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73206465T>A , CM000676.2:g.73206465T>A	GRCh38
NC_000014.8:g.73673173T>A , CM000676.1:g.73673173T>A	GRCh37
NC_000014.7:g.72742926T>A	NCBI36
NG_007386.2:g.74995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.936T>A	ENSP00000452477.2:p.Asn312Lys
ENST00000554131.6:c.948T>A	ENSP00000451915.2:p.Asn316Lys
ENST00000554995.2:n.1698T>A
ENST00000555386.6:c.936T>A	ENSP00000450845.1:p.Asn312Lys
ENST00000556066.2:n.1374T>A
ENST00000556951.6:c.936T>A	ENSP00000450551.2:p.Asn312Lys
ENST00000557293.6:c.828T>A	ENSP00000451880.2:p.Asn276Lys
ENST00000559361.6:c.*892T>A	ENSP00000454156.1:n.*892T>A
ENST00000697912.1:c.936T>A	ENSP00000513477.1:p.Asn312Lys
ENST00000697913.1:n.1202T>A
ENST00000700265.1:c.936T>A	ENSP00000514901.1:p.Asn312Lys
ENST00000700266.1:c.*1160T>A	ENSP00000514902.1:n.*1160T>A
ENST00000700267.1:c.948T>A	ENSP00000514903.1:p.Asn316Lys
ENST00000700268.1:c.948T>A	ENSP00000514904.1:p.Asn316Lys
ENST00000700269.1:c.948T>A	ENSP00000514905.1:p.Asn316Lys
ENST00000700270.1:n.1204T>A
ENST00000700271.1:c.936T>A	ENSP00000514906.1:p.Asn312Lys
ENST00000700272.1:c.*892T>A	ENSP00000514907.1:n.*892T>A
ENST00000700273.1:c.936T>A	ENSP00000514908.1:p.Asn312Lys
ENST00000700302.1:c.948T>A	ENSP00000514929.1:p.Asn316Lys
ENST00000700303.1:c.*610T>A	ENSP00000514930.1:n.*610T>A
ENST00000700304.1:c.*892T>A	ENSP00000514931.1:n.*892T>A
ENST00000700305.1:c.*506T>A	ENSP00000514932.1:n.*506T>A
ENST00000700306.1:c.948T>A	ENSP00000514933.1:p.Asn316Lys
ENST00000700307.1:c.849T>A	ENSP00000514934.1:p.Asn283Lys
ENST00000700308.1:c.*892T>A	ENSP00000514935.1:n.*892T>A
ENST00000700309.1:c.*1037T>A	ENSP00000514936.1:n.*1037T>A
ENST00000700310.1:c.837T>A	ENSP00000514937.1:p.Asn279Lys
ENST00000700311.1:c.948T>A	ENSP00000514938.1:p.Asn316Lys
ENST00000700312.1:c.699T>A	ENSP00000514939.1:p.Asn233Lys
ENST00000700313.1:c.936T>A	ENSP00000514940.1:p.Asn312Lys
ENST00000700314.1:c.*887T>A	ENSP00000514941.1:n.*887T>A
ENST00000700315.1:c.*506T>A	ENSP00000514942.1:n.*506T>A
ENST00000700316.1:c.*728T>A	ENSP00000514943.1:n.*728T>A
ENST00000700317.1:c.948T>A	ENSP00000514944.1:p.Asn316Lys
ENST00000700318.1:c.*610T>A	ENSP00000514945.1:n.*610T>A
ENST00000700319.1:c.*388T>A	ENSP00000514946.1:n.*388T>A
ENST00000700320.1:c.975T>A	ENSP00000514947.1:p.Asn325Lys
ENST00000700321.1:c.948T>A	ENSP00000514948.1:p.Asn316Lys
ENST00000700322.1:c.936T>A	ENSP00000514949.1:p.Asn312Lys
ENST00000700323.1:c.948T>A	ENSP00000514950.1:p.Asn316Lys
ENST00000700324.1:c.936T>A	ENSP00000514951.1:p.Asn312Lys
ENST00000700375.1:c.948T>A	ENSP00000514966.1:p.Asn316Lys
ENST00000700377.1:c.*416T>A	ENSP00000514967.1:n.*416T>A
ENST00000700378.1:c.948T>A	ENSP00000514968.1:p.Asn316Lys
ENST00000700379.1:n.1346T>A
ENST00000700389.1:c.936T>A	ENSP00000514970.1:p.Asn312Lys
ENST00000700390.1:n.2659T>A
ENST00000700391.1:n.159T>A
ENST00000700404.1:n.1947T>A
ENST00000700433.1:n.1199T>A
ENST00000700434.1:n.1201T>A
ENST00000700435.1:n.1083T>A
ENST00000700436.1:c.948T>A	ENSP00000514987.1:p.Asn316Lys
ENST00000700437.1:c.699T>A	ENSP00000514988.1:p.Asn233Lys
ENST00000700467.1:n.1205T>A
ENST00000700468.1:c.837T>A	ENSP00000515001.1:p.Asn279Lys
ENST00000700469.1:c.936T>A	ENSP00000515002.1:p.Asn312Lys
ENST00000324501.10:c.948T>A MANE Select	ENSP00000326366.5:p.Asn316Lys
ENST00000324501.9:c.948T>A	ENSP00000326366.5:p.Asn316Lys
ENST00000357710.8:c.936T>A	ENSP00000350342.4:p.Asn312Lys
ENST00000394164.5:c.936T>A	ENSP00000377719.1:p.Asn312Lys
ENST00000406768.1:c.672T>A	ENSP00000385948.1:p.Asn224Lys
ENST00000553855.5:c.948T>A	ENSP00000452242.1:p.Asn316Lys
ENST00000554995.1:n.500T>A
ENST00000555386.5:c.936T>A	ENSP00000450845.1:p.Asn312Lys
ENST00000555867.1:n.313T>A
ENST00000557511.5:c.948T>A	ENSP00000451429.1:p.Asn316Lys
NM_000021.3:c.948T>A	NP_000012.1:p.Asn316Lys
NM_007318.2:c.936T>A	NP_015557.2:p.Asn312Lys
XM_005267864.1:c.948T>A	XP_005267921.1:p.Asn316Lys
XM_005267866.1:c.936T>A	XP_005267923.1:p.Asn312Lys
XM_011536971.1:c.948T>A	XP_011535273.1:p.Asn316Lys
XM_011536972.1:c.948T>A	XP_011535274.1:p.Asn316Lys
XM_011536973.1:c.936T>A	XP_011535275.1:p.Asn312Lys
XM_011536974.1:c.936T>A	XP_011535276.1:p.Asn312Lys
XM_005267864.3:c.948T>A	XP_005267921.1:p.Asn316Lys
XM_005267866.2:c.936T>A	XP_005267923.1:p.Asn312Lys
XM_011536972.2:c.948T>A	XP_011535274.1:p.Asn316Lys
XM_011536973.2:c.936T>A	XP_011535275.1:p.Asn312Lys
XM_011536974.2:c.936T>A	XP_011535276.1:p.Asn312Lys
NM_000021.4:c.948T>A MANE Select	NP_000012.1:p.Asn316Lys
NM_007318.3:c.936T>A	NP_015557.2:p.Asn312Lys