Canonical Allele Identifier: CA964614906

Gene: PSEN1

Linked Data

• dbSNP Id: rs398043836
• gnomAD v3: 14-73212088-C-CTTTTTTTTTTTTTTTTT
• gnomAD v4: 14-73212088-C-CTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73212113_73212129dup , CM000676.2:g.73212113_73212129dup	GRCh38
NC_000014.8:g.73678821_73678837dup , CM000676.1:g.73678821_73678837dup	GRCh37
NC_000014.7:g.72748574_72748590dup	NCBI36
NG_007386.2:g.80643_80659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1117+171_1117+187dup	ENSP00000452477.2:n.1117+171_1117+187dup
ENST00000554131.6:c.1129+171_1129+187dup	ENSP00000451915.2:n.1129+171_1129+187dup
ENST00000554995.2:n.1879+171_1879+187dup
ENST00000555386.6:c.*84+171_*84+187dup	ENSP00000450845.1:n.*84+171_*84+187dup
ENST00000556066.2:n.1555+171_1555+187dup
ENST00000556951.6:c.1117+171_1117+187dup	ENSP00000450551.2:n.1117+171_1117+187dup
ENST00000557293.6:c.1009+171_1009+187dup	ENSP00000451880.2:n.1009+171_1009+187dup
ENST00000559361.6:c.*1073+171_*1073+187dup	ENSP00000454156.1:n.*1073+171_*1073+187dup
ENST00000697912.1:c.1117+171_1117+187dup	ENSP00000513477.1:n.1117+171_1117+187dup
ENST00000697913.1:n.6679+171_6679+187dup
ENST00000700265.1:c.1117+171_1117+187dup	ENSP00000514901.1:n.1117+171_1117+187dup
ENST00000700266.1:c.*1341+171_*1341+187dup	ENSP00000514902.1:n.*1341+171_*1341+187dup
ENST00000700267.1:c.1129+171_1129+187dup	ENSP00000514903.1:n.1129+171_1129+187dup
ENST00000700268.1:c.1129+171_1129+187dup	ENSP00000514904.1:n.1129+171_1129+187dup
ENST00000700269.1:c.1129+171_1129+187dup	ENSP00000514905.1:n.1129+171_1129+187dup
ENST00000700271.1:c.944-5013_944-4997dup	ENSP00000514906.1:n.944-5013_944-4997dup
ENST00000700272.1:c.*1073+171_*1073+187dup	ENSP00000514907.1:n.*1073+171_*1073+187dup
ENST00000700273.1:c.1117+171_1117+187dup	ENSP00000514908.1:n.1117+171_1117+187dup
ENST00000700302.1:c.1172+128_1172+144dup	ENSP00000514929.1:n.1172+128_1172+144dup
ENST00000700303.1:c.*791+171_*791+187dup	ENSP00000514930.1:n.*791+171_*791+187dup
ENST00000700304.1:c.*1073+171_*1073+187dup	ENSP00000514931.1:n.*1073+171_*1073+187dup
ENST00000700305.1:c.*687+171_*687+187dup	ENSP00000514932.1:n.*687+171_*687+187dup
ENST00000700306.1:c.1129+171_1129+187dup	ENSP00000514933.1:n.1129+171_1129+187dup
ENST00000700307.1:c.1030+171_1030+187dup	ENSP00000514934.1:n.1030+171_1030+187dup
ENST00000700308.1:c.*1073+171_*1073+187dup	ENSP00000514935.1:n.*1073+171_*1073+187dup
ENST00000700309.1:c.*1218+171_*1218+187dup	ENSP00000514936.1:n.*1218+171_*1218+187dup
ENST00000700310.1:c.*84+171_*84+187dup	ENSP00000514937.1:n.*84+171_*84+187dup
ENST00000700311.1:c.1172+128_1172+144dup	ENSP00000514938.1:n.1172+128_1172+144dup
ENST00000700312.1:c.880+171_880+187dup	ENSP00000514939.1:n.880+171_880+187dup
ENST00000700313.1:c.1117+171_1117+187dup	ENSP00000514940.1:n.1117+171_1117+187dup
ENST00000700314.1:c.*1068+171_*1068+187dup	ENSP00000514941.1:n.*1068+171_*1068+187dup
ENST00000700315.1:c.*687+171_*687+187dup	ENSP00000514942.1:n.*687+171_*687+187dup
ENST00000700316.1:c.*909+171_*909+187dup	ENSP00000514943.1:n.*909+171_*909+187dup
ENST00000700317.1:c.1129+171_1129+187dup	ENSP00000514944.1:n.1129+171_1129+187dup
ENST00000700318.1:c.*791+171_*791+187dup	ENSP00000514945.1:n.*791+171_*791+187dup
ENST00000700319.1:c.*569+171_*569+187dup	ENSP00000514946.1:n.*569+171_*569+187dup
ENST00000700320.1:c.1156+171_1156+187dup	ENSP00000514947.1:n.1156+171_1156+187dup
ENST00000700321.1:c.1129+171_1129+187dup	ENSP00000514948.1:n.1129+171_1129+187dup
ENST00000700322.1:c.1117+171_1117+187dup	ENSP00000514949.1:n.1117+171_1117+187dup
ENST00000700323.1:c.1129+171_1129+187dup	ENSP00000514950.1:n.1129+171_1129+187dup
ENST00000700324.1:c.1117+171_1117+187dup	ENSP00000514951.1:n.1117+171_1117+187dup
ENST00000700375.1:c.1129+171_1129+187dup	ENSP00000514966.1:n.1129+171_1129+187dup
ENST00000700377.1:c.*597+171_*597+187dup	ENSP00000514967.1:n.*597+171_*597+187dup
ENST00000700378.1:c.1129+171_1129+187dup	ENSP00000514968.1:n.1129+171_1129+187dup
ENST00000700379.1:n.1527+171_1527+187dup
ENST00000700389.1:c.1117+171_1117+187dup	ENSP00000514970.1:n.1117+171_1117+187dup
ENST00000700390.1:n.2840+171_2840+187dup
ENST00000700391.1:n.340+171_340+187dup
ENST00000700404.1:n.2128+171_2128+187dup
ENST00000700435.1:n.1264+171_1264+187dup
ENST00000700436.1:c.*84+171_*84+187dup	ENSP00000514987.1:n.*84+171_*84+187dup
ENST00000700437.1:c.880+171_880+187dup	ENSP00000514988.1:n.880+171_880+187dup
ENST00000700468.1:c.1018+171_1018+187dup	ENSP00000515001.1:n.1018+171_1018+187dup
ENST00000700469.1:c.1117+171_1117+187dup	ENSP00000515002.1:n.1117+171_1117+187dup
ENST00000324501.10:c.1129+171_1129+187dup MANE Select	ENSP00000326366.5:n.1129+171_1129+187dup
ENST00000324501.9:c.1129+171_1129+187dup	ENSP00000326366.5:n.1129+171_1129+187dup
ENST00000357710.8:c.1117+171_1117+187dup	ENSP00000350342.4:n.1117+171_1117+187dup
ENST00000394164.5:c.1117+171_1117+187dup	ENSP00000377719.1:n.1117+171_1117+187dup
ENST00000406768.1:c.853+171_853+187dup	ENSP00000385948.1:n.853+171_853+187dup
ENST00000553855.5:c.1221+171_1221+187dup	ENSP00000452242.1:n.1221+171_1221+187dup
ENST00000555386.5:c.1209+171_1209+187dup	ENSP00000450845.1:n.1209+171_1209+187dup
ENST00000555867.1:n.494+171_494+187dup
ENST00000557511.5:c.956-5013_956-4997dup	ENSP00000451429.1:n.956-5013_956-4997dup
NM_000021.3:c.1129+171_1129+187dup	NP_000012.1:n.1129+171_1129+187dup
NM_007318.2:c.1117+171_1117+187dup	NP_015557.2:n.1117+171_1117+187dup
XM_005267864.1:c.1129+171_1129+187dup	XP_005267921.1:n.1129+171_1129+187dup
XM_005267866.1:c.1117+171_1117+187dup	XP_005267923.1:n.1117+171_1117+187dup
XM_011536971.1:c.1129+171_1129+187dup	XP_011535273.1:n.1129+171_1129+187dup
XM_011536972.1:c.1129+171_1129+187dup	XP_011535274.1:n.1129+171_1129+187dup
XM_011536973.1:c.1117+171_1117+187dup	XP_011535275.1:n.1117+171_1117+187dup
XM_011536974.1:c.1117+171_1117+187dup	XP_011535276.1:n.1117+171_1117+187dup
XM_005267864.3:c.1129+171_1129+187dup	XP_005267921.1:n.1129+171_1129+187dup
XM_005267866.2:c.1117+171_1117+187dup	XP_005267923.1:n.1117+171_1117+187dup
XM_011536972.2:c.1129+171_1129+187dup	XP_011535274.1:n.1129+171_1129+187dup
XM_011536973.2:c.1117+171_1117+187dup	XP_011535275.1:n.1117+171_1117+187dup
XM_011536974.2:c.1117+171_1117+187dup	XP_011535276.1:n.1117+171_1117+187dup
NM_000021.4:c.1129+171_1129+187dup MANE Select	NP_000012.1:n.1129+171_1129+187dup
NM_007318.3:c.1117+171_1117+187dup	NP_015557.2:n.1117+171_1117+187dup