Canonical Allele Identifier: CA2625562657

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73223284-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73223284T>C , CM000676.2:g.73223284T>C	GRCh38
NC_000014.8:g.73689992T>C , CM000676.1:g.73689992T>C	GRCh37
NC_000014.7:g.72759745T>C	NCBI36
NG_007386.2:g.91814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.*3995T>C	ENSP00000452477.2:n.*3995T>C
ENST00000554131.6:c.*3995T>C	ENSP00000451915.2:n.*3995T>C
ENST00000554995.2:n.6149T>C
ENST00000556066.2:n.5825T>C
ENST00000556951.6:c.*3995T>C	ENSP00000450551.2:n.*3995T>C
ENST00000557293.6:c.*3995T>C	ENSP00000451880.2:n.*3995T>C
ENST00000559361.6:c.*5343T>C	ENSP00000454156.1:n.*5343T>C
ENST00000697912.1:c.*4587T>C	ENSP00000513477.1:n.*4587T>C
ENST00000697913.1:n.10949T>C
ENST00000697915.1:n.4756T>C
ENST00000700265.1:c.*3995T>C	ENSP00000514901.1:n.*3995T>C
ENST00000700266.1:c.*5611T>C	ENSP00000514902.1:n.*5611T>C
ENST00000700267.1:c.*3995T>C	ENSP00000514903.1:n.*3995T>C
ENST00000700268.1:c.*3995T>C	ENSP00000514904.1:n.*3995T>C
ENST00000700269.1:c.*3995T>C	ENSP00000514905.1:n.*3995T>C
ENST00000700271.1:c.*3995T>C	ENSP00000514906.1:n.*3995T>C
ENST00000700272.1:c.*5343T>C	ENSP00000514907.1:n.*5343T>C
ENST00000700273.1:c.*3995T>C	ENSP00000514908.1:n.*3995T>C
ENST00000700302.1:c.*4215T>C	ENSP00000514929.1:n.*4215T>C
ENST00000700303.1:c.*5061T>C	ENSP00000514930.1:n.*5061T>C
ENST00000700304.1:c.*5343T>C	ENSP00000514931.1:n.*5343T>C
ENST00000700305.1:c.*4957T>C	ENSP00000514932.1:n.*4957T>C
ENST00000700306.1:c.*3995T>C	ENSP00000514933.1:n.*3995T>C
ENST00000700307.1:c.*3995T>C	ENSP00000514934.1:n.*3995T>C
ENST00000700308.1:c.*5343T>C	ENSP00000514935.1:n.*5343T>C
ENST00000700309.1:c.*5488T>C	ENSP00000514936.1:n.*5488T>C
ENST00000700310.1:c.*4354T>C	ENSP00000514937.1:n.*4354T>C
ENST00000700311.1:c.*4215T>C	ENSP00000514938.1:n.*4215T>C
ENST00000700312.1:c.*3995T>C	ENSP00000514939.1:n.*3995T>C
ENST00000700313.1:c.*3995T>C	ENSP00000514940.1:n.*3995T>C
ENST00000700314.1:c.*5338T>C	ENSP00000514941.1:n.*5338T>C
ENST00000700315.1:c.*4957T>C	ENSP00000514942.1:n.*4957T>C
ENST00000700316.1:c.*5179T>C	ENSP00000514943.1:n.*5179T>C
ENST00000700317.1:c.*3995T>C	ENSP00000514944.1:n.*3995T>C
ENST00000700318.1:c.*5061T>C	ENSP00000514945.1:n.*5061T>C
ENST00000700319.1:c.*4839T>C	ENSP00000514946.1:n.*4839T>C
ENST00000700320.1:c.*3995T>C	ENSP00000514947.1:n.*3995T>C
ENST00000700321.1:c.*3995T>C	ENSP00000514948.1:n.*3995T>C
ENST00000700322.1:c.*3995T>C	ENSP00000514949.1:n.*3995T>C
ENST00000700323.1:c.*3995T>C	ENSP00000514950.1:n.*3995T>C
ENST00000700324.1:c.*3995T>C	ENSP00000514951.1:n.*3995T>C
ENST00000700375.1:c.*3995T>C	ENSP00000514966.1:n.*3995T>C
ENST00000700377.1:c.*4867T>C	ENSP00000514967.1:n.*4867T>C
ENST00000700378.1:c.*3995T>C	ENSP00000514968.1:n.*3995T>C
ENST00000700379.1:n.5797T>C
ENST00000700390.1:n.7110T>C
ENST00000700404.1:n.6398T>C
ENST00000700436.1:c.*4354T>C	ENSP00000514987.1:n.*4354T>C
ENST00000700437.1:c.*3995T>C	ENSP00000514988.1:n.*3995T>C
ENST00000700468.1:c.*3995T>C	ENSP00000515001.1:n.*3995T>C
ENST00000700469.1:c.*3995T>C	ENSP00000515002.1:n.*3995T>C
ENST00000324501.10:c.*3995T>C MANE Select	ENSP00000326366.5:n.*3995T>C
ENST00000324501.9:c.*3995T>C	ENSP00000326366.5:n.*3995T>C
NM_000021.3:c.*3995T>C	NP_000012.1:n.*3995T>C
NM_007318.2:c.*3995T>C	NP_015557.2:n.*3995T>C
XM_005267864.1:c.*3995T>C	XP_005267921.1:n.*3995T>C
XM_005267866.1:c.*3995T>C	XP_005267923.1:n.*3995T>C
XM_011536971.1:c.*3995T>C	XP_011535273.1:n.*3995T>C
XM_011536972.1:c.*3995T>C	XP_011535274.1:n.*3995T>C
XM_011536973.1:c.*3995T>C	XP_011535275.1:n.*3995T>C
XM_011536974.1:c.*3995T>C	XP_011535276.1:n.*3995T>C
NM_000021.4:c.*3995T>C MANE Select	NP_000012.1:n.*3995T>C
NM_007318.3:c.*3995T>C	NP_015557.2:n.*3995T>C