Canonical Allele Identifier: CA390305413

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73678521G>A (hg19) ; chr14:g.73211813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73211813G>A , CM000676.2:g.73211813G>A	GRCh38
NC_000014.8:g.73678521G>A , CM000676.1:g.73678521G>A	GRCh37
NC_000014.7:g.72748274G>A	NCBI36
NG_007386.2:g.80343G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.988G>A	ENSP00000452477.2:p.Gly330Ser
ENST00000554131.6:c.1000G>A	ENSP00000451915.2:p.Gly334Ser
ENST00000554995.2:n.1750G>A
ENST00000555386.6:c.1080G>A	ENSP00000450845.1:p.Met360Ile
ENST00000556066.2:n.1426G>A
ENST00000556951.6:c.988G>A	ENSP00000450551.2:p.Gly330Ser
ENST00000557293.6:c.880G>A	ENSP00000451880.2:p.Gly294Ser
ENST00000559361.6:c.*944G>A	ENSP00000454156.1:n.*944G>A
ENST00000697912.1:c.988G>A	ENSP00000513477.1:p.Gly330Ser
ENST00000697913.1:n.6550G>A
ENST00000700265.1:c.988G>A	ENSP00000514901.1:p.Gly330Ser
ENST00000700266.1:c.*1212G>A	ENSP00000514902.1:n.*1212G>A
ENST00000700267.1:c.1000G>A	ENSP00000514903.1:p.Gly334Ser
ENST00000700268.1:c.1000G>A	ENSP00000514904.1:p.Gly334Ser
ENST00000700269.1:c.1000G>A	ENSP00000514905.1:p.Gly334Ser
ENST00000700271.1:c.944-5313G>A	ENSP00000514906.1:n.944-5313G>A
ENST00000700272.1:c.*944G>A	ENSP00000514907.1:n.*944G>A
ENST00000700273.1:c.988G>A	ENSP00000514908.1:p.Gly330Ser
ENST00000700302.1:c.1000G>A	ENSP00000514929.1:p.Gly334Ser
ENST00000700303.1:c.*662G>A	ENSP00000514930.1:n.*662G>A
ENST00000700304.1:c.*944G>A	ENSP00000514931.1:n.*944G>A
ENST00000700305.1:c.*558G>A	ENSP00000514932.1:n.*558G>A
ENST00000700306.1:c.1000G>A	ENSP00000514933.1:p.Gly334Ser
ENST00000700307.1:c.901G>A	ENSP00000514934.1:p.Gly301Ser
ENST00000700308.1:c.*944G>A	ENSP00000514935.1:n.*944G>A
ENST00000700309.1:c.*1089G>A	ENSP00000514936.1:n.*1089G>A
ENST00000700310.1:c.981G>A	ENSP00000514937.1:p.Met327Ile
ENST00000700311.1:c.1000G>A	ENSP00000514938.1:p.Gly334Ser
ENST00000700312.1:c.751G>A	ENSP00000514939.1:p.Gly251Ser
ENST00000700313.1:c.988G>A	ENSP00000514940.1:p.Gly330Ser
ENST00000700314.1:c.*939G>A	ENSP00000514941.1:n.*939G>A
ENST00000700315.1:c.*558G>A	ENSP00000514942.1:n.*558G>A
ENST00000700316.1:c.*780G>A	ENSP00000514943.1:n.*780G>A
ENST00000700317.1:c.1000G>A	ENSP00000514944.1:p.Gly334Ser
ENST00000700318.1:c.*662G>A	ENSP00000514945.1:n.*662G>A
ENST00000700319.1:c.*440G>A	ENSP00000514946.1:n.*440G>A
ENST00000700320.1:c.1027G>A	ENSP00000514947.1:p.Gly343Ser
ENST00000700321.1:c.1000G>A	ENSP00000514948.1:p.Gly334Ser
ENST00000700322.1:c.988G>A	ENSP00000514949.1:p.Gly330Ser
ENST00000700323.1:c.1000G>A	ENSP00000514950.1:p.Gly334Ser
ENST00000700324.1:c.988G>A	ENSP00000514951.1:p.Gly330Ser
ENST00000700375.1:c.1000G>A	ENSP00000514966.1:p.Gly334Ser
ENST00000700377.1:c.*468G>A	ENSP00000514967.1:n.*468G>A
ENST00000700378.1:c.1000G>A	ENSP00000514968.1:p.Gly334Ser
ENST00000700379.1:n.1398G>A
ENST00000700389.1:c.988G>A	ENSP00000514970.1:p.Gly330Ser
ENST00000700390.1:n.2711G>A
ENST00000700391.1:n.211G>A
ENST00000700404.1:n.1999G>A
ENST00000700435.1:n.1135G>A
ENST00000700436.1:c.1092G>A	ENSP00000514987.1:p.Met364Ile
ENST00000700437.1:c.751G>A	ENSP00000514988.1:p.Gly251Ser
ENST00000700468.1:c.889G>A	ENSP00000515001.1:p.Gly297Ser
ENST00000700469.1:c.988G>A	ENSP00000515002.1:p.Gly330Ser
ENST00000324501.10:c.1000G>A MANE Select	ENSP00000326366.5:p.Gly334Ser
ENST00000324501.9:c.1000G>A	ENSP00000326366.5:p.Gly334Ser
ENST00000357710.8:c.988G>A	ENSP00000350342.4:p.Gly330Ser
ENST00000394164.5:c.988G>A	ENSP00000377719.1:p.Gly330Ser
ENST00000406768.1:c.724G>A	ENSP00000385948.1:p.Gly242Ser
ENST00000553855.5:c.1092G>A	ENSP00000452242.1:p.Met364Ile
ENST00000554995.1:n.552G>A
ENST00000555386.5:c.1080G>A	ENSP00000450845.1:p.Met360Ile
ENST00000555867.1:n.365G>A
ENST00000557511.5:c.956-5313G>A	ENSP00000451429.1:n.956-5313G>A
NM_000021.3:c.1000G>A	NP_000012.1:p.Gly334Ser
NM_007318.2:c.988G>A	NP_015557.2:p.Gly330Ser
XM_005267864.1:c.1000G>A	XP_005267921.1:p.Gly334Ser
XM_005267866.1:c.988G>A	XP_005267923.1:p.Gly330Ser
XM_011536971.1:c.1000G>A	XP_011535273.1:p.Gly334Ser
XM_011536972.1:c.1000G>A	XP_011535274.1:p.Gly334Ser
XM_011536973.1:c.988G>A	XP_011535275.1:p.Gly330Ser
XM_011536974.1:c.988G>A	XP_011535276.1:p.Gly330Ser
XM_005267864.3:c.1000G>A	XP_005267921.1:p.Gly334Ser
XM_005267866.2:c.988G>A	XP_005267923.1:p.Gly330Ser
XM_011536972.2:c.1000G>A	XP_011535274.1:p.Gly334Ser
XM_011536973.2:c.988G>A	XP_011535275.1:p.Gly330Ser
XM_011536974.2:c.988G>A	XP_011535276.1:p.Gly330Ser
NM_000021.4:c.1000G>A MANE Select	NP_000012.1:p.Gly334Ser
NM_007318.3:c.988G>A	NP_015557.2:p.Gly330Ser