Canonical Allele Identifier: CA2625553440

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136512-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136512C>A , CM000676.2:g.73136512C>A	GRCh38
NC_000014.8:g.73603220C>A , CM000676.1:g.73603220C>A	GRCh37
NC_000014.7:g.72672973C>A	NCBI36
NG_007386.2:g.5042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-244C>A	ENSP00000514869.1:n.-244C>A
ENST00000553599.6:c.-249C>A	ENSP00000452477.2:n.-249C>A
ENST00000554131.6:c.-248C>A	ENSP00000451915.2:n.-248C>A
ENST00000555386.6:c.-207C>A	ENSP00000450845.1:n.-207C>A
ENST00000556011.6:c.-249C>A	ENSP00000451662.2:n.-249C>A
ENST00000556951.6:c.-203C>A	ENSP00000450551.2:n.-203C>A
ENST00000557293.6:c.-203C>A	ENSP00000451880.2:n.-203C>A
ENST00000697912.1:c.-207C>A	ENSP00000513477.1:n.-207C>A
ENST00000697913.1:n.48C>A
ENST00000697914.1:n.6C>A
ENST00000700265.1:c.-104+64C>A	ENSP00000514901.1:n.-104+64C>A
ENST00000700266.1:c.-207C>A	ENSP00000514902.1:n.-207C>A
ENST00000700267.1:c.-136+64C>A	ENSP00000514903.1:n.-136+64C>A
ENST00000700268.1:c.-203C>A	ENSP00000514904.1:n.-203C>A
ENST00000700269.1:c.-249C>A	ENSP00000514905.1:n.-249C>A
ENST00000700270.1:n.62C>A
ENST00000700271.1:c.-207C>A	ENSP00000514906.1:n.-207C>A
ENST00000700272.1:c.-203C>A	ENSP00000514907.1:n.-203C>A
ENST00000700273.1:c.-249C>A	ENSP00000514908.1:n.-249C>A
ENST00000700302.1:c.-207C>A	ENSP00000514929.1:n.-207C>A
ENST00000700303.1:c.-207C>A	ENSP00000514930.1:n.-207C>A
ENST00000700304.1:c.-207C>A	ENSP00000514931.1:n.-207C>A
ENST00000700305.1:c.-207C>A	ENSP00000514932.1:n.-207C>A
ENST00000700306.1:c.-249C>A	ENSP00000514933.1:n.-249C>A
ENST00000700307.1:c.-207C>A	ENSP00000514934.1:n.-207C>A
ENST00000700308.1:c.-207C>A	ENSP00000514935.1:n.-207C>A
ENST00000700309.1:c.-207C>A	ENSP00000514936.1:n.-207C>A
ENST00000700310.1:c.-207C>A	ENSP00000514937.1:n.-207C>A
ENST00000700311.1:c.-248C>A	ENSP00000514938.1:n.-248C>A
ENST00000700312.1:c.-356C>A	ENSP00000514939.1:n.-356C>A
ENST00000700313.1:c.-244C>A	ENSP00000514940.1:n.-244C>A
ENST00000700314.1:c.-207C>A	ENSP00000514941.1:n.-207C>A
ENST00000700315.1:c.-207C>A	ENSP00000514942.1:n.-207C>A
ENST00000700316.1:c.-207C>A	ENSP00000514943.1:n.-207C>A
ENST00000700317.1:c.-175C>A	ENSP00000514944.1:n.-175C>A
ENST00000700318.1:c.-207C>A	ENSP00000514945.1:n.-207C>A
ENST00000700319.1:c.-207C>A	ENSP00000514946.1:n.-207C>A
ENST00000700320.1:c.-207C>A	ENSP00000514947.1:n.-207C>A
ENST00000700321.1:c.-209C>A	ENSP00000514948.1:n.-209C>A
ENST00000700322.1:c.-175C>A	ENSP00000514949.1:n.-175C>A
ENST00000700323.1:c.-253C>A	ENSP00000514950.1:n.-253C>A
ENST00000700374.1:n.52C>A
ENST00000700388.1:n.41C>A
ENST00000700389.1:c.-372C>A	ENSP00000514970.1:n.-372C>A
ENST00000324501.10:c.-207C>A MANE Select	ENSP00000326366.5:n.-207C>A
ENST00000324501.9:c.-207C>A	ENSP00000326366.5:n.-207C>A
ENST00000357710.8:c.-207C>A	ENSP00000350342.4:n.-207C>A
ENST00000394157.7:c.-207C>A	ENSP00000377712.3:n.-207C>A
ENST00000553447.6:n.36C>A
ENST00000553599.5:c.-249C>A	ENSP00000452477.1:n.-249C>A
ENST00000553719.5:c.-203C>A	ENSP00000451674.1:n.-203C>A
ENST00000554131.5:c.-248C>A	ENSP00000451915.1:n.-248C>A
ENST00000555254.5:c.-231C>A	ENSP00000450652.1:n.-231C>A
ENST00000556011.5:c.-249C>A	ENSP00000451662.1:n.-249C>A
ENST00000556533.5:c.-196C>A	ENSP00000452128.1:n.-196C>A
ENST00000556864.5:c.-306C>A	ENSP00000451588.1:n.-306C>A
ENST00000556951.5:c.-203C>A	ENSP00000450551.1:n.-203C>A
ENST00000557293.5:c.-203C>A	ENSP00000451880.1:n.-203C>A
ENST00000557356.5:c.-136+64C>A	ENSP00000451498.1:n.-136+64C>A
ENST00000560005.6:c.-309C>A	ENSP00000453466.1:n.-309C>A
NM_000021.3:c.-207C>A	NP_000012.1:n.-207C>A
NM_007318.2:c.-207C>A	NP_015557.2:n.-207C>A
XM_005267864.1:c.-203C>A	XP_005267921.1:n.-203C>A
XM_005267866.1:c.-203C>A	XP_005267923.1:n.-203C>A
XM_005267864.3:c.-203C>A	XP_005267921.1:n.-203C>A
XM_005267866.2:c.-203C>A	XP_005267923.1:n.-203C>A
NM_000021.4:c.-207C>A MANE Select	NP_000012.1:n.-207C>A
NM_007318.3:c.-207C>A	NP_015557.2:n.-207C>A