Canonical Allele Identifier: CA390305870

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73683917A>G (hg19) ; chr14:g.73217209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73217209A>G , CM000676.2:g.73217209A>G	GRCh38
NC_000014.8:g.73683917A>G , CM000676.1:g.73683917A>G	GRCh37
NC_000014.7:g.72753670A>G	NCBI36
NG_007386.2:g.85739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1201A>G	ENSP00000452477.2:p.Asn401Asp
ENST00000554131.6:c.1213A>G	ENSP00000451915.2:p.Asn405Asp
ENST00000554995.2:n.1963A>G
ENST00000555386.6:c.*168A>G	ENSP00000450845.1:n.*168A>G
ENST00000556066.2:n.1639A>G
ENST00000556951.6:c.1201A>G	ENSP00000450551.2:p.Asn401Asp
ENST00000557293.6:c.1093A>G	ENSP00000451880.2:p.Asn365Asp
ENST00000559361.6:c.*1157A>G	ENSP00000454156.1:n.*1157A>G
ENST00000697912.1:c.*401A>G	ENSP00000513477.1:n.*401A>G
ENST00000697913.1:n.6763A>G
ENST00000697915.1:n.570A>G
ENST00000700265.1:c.1201A>G	ENSP00000514901.1:p.Asn401Asp
ENST00000700266.1:c.*1425A>G	ENSP00000514902.1:n.*1425A>G
ENST00000700267.1:c.1213A>G	ENSP00000514903.1:p.Asn405Asp
ENST00000700268.1:c.1213A>G	ENSP00000514904.1:p.Asn405Asp
ENST00000700269.1:c.1213A>G	ENSP00000514905.1:p.Asn405Asp
ENST00000700271.1:c.1027A>G	ENSP00000514906.1:p.Asn343Asp
ENST00000700272.1:c.*1157A>G	ENSP00000514907.1:n.*1157A>G
ENST00000700273.1:c.1201A>G	ENSP00000514908.1:p.Asn401Asp
ENST00000700302.1:c.*29A>G	ENSP00000514929.1:n.*29A>G
ENST00000700303.1:c.*875A>G	ENSP00000514930.1:n.*875A>G
ENST00000700304.1:c.*1157A>G	ENSP00000514931.1:n.*1157A>G
ENST00000700305.1:c.*771A>G	ENSP00000514932.1:n.*771A>G
ENST00000700306.1:c.1213A>G	ENSP00000514933.1:p.Asn405Asp
ENST00000700307.1:c.1114A>G	ENSP00000514934.1:p.Asn372Asp
ENST00000700308.1:c.*1157A>G	ENSP00000514935.1:n.*1157A>G
ENST00000700309.1:c.*1302A>G	ENSP00000514936.1:n.*1302A>G
ENST00000700310.1:c.*168A>G	ENSP00000514937.1:n.*168A>G
ENST00000700311.1:c.*29A>G	ENSP00000514938.1:n.*29A>G
ENST00000700312.1:c.964A>G	ENSP00000514939.1:p.Asn322Asp
ENST00000700313.1:c.1201A>G	ENSP00000514940.1:p.Asn401Asp
ENST00000700314.1:c.*1152A>G	ENSP00000514941.1:n.*1152A>G
ENST00000700315.1:c.*771A>G	ENSP00000514942.1:n.*771A>G
ENST00000700316.1:c.*993A>G	ENSP00000514943.1:n.*993A>G
ENST00000700317.1:c.1213A>G	ENSP00000514944.1:p.Asn405Asp
ENST00000700318.1:c.*875A>G	ENSP00000514945.1:n.*875A>G
ENST00000700319.1:c.*653A>G	ENSP00000514946.1:n.*653A>G
ENST00000700320.1:c.1240A>G	ENSP00000514947.1:p.Asn414Asp
ENST00000700321.1:c.1213A>G	ENSP00000514948.1:p.Asn405Asp
ENST00000700322.1:c.1201A>G	ENSP00000514949.1:p.Asn401Asp
ENST00000700323.1:c.1213A>G	ENSP00000514950.1:p.Asn405Asp
ENST00000700324.1:c.1201A>G	ENSP00000514951.1:p.Asn401Asp
ENST00000700375.1:c.1213A>G	ENSP00000514966.1:p.Asn405Asp
ENST00000700377.1:c.*681A>G	ENSP00000514967.1:n.*681A>G
ENST00000700378.1:c.1213A>G	ENSP00000514968.1:p.Asn405Asp
ENST00000700379.1:n.1611A>G
ENST00000700389.1:c.1201A>G	ENSP00000514970.1:p.Asn401Asp
ENST00000700390.1:n.2924A>G
ENST00000700391.1:n.424A>G
ENST00000700404.1:n.2212A>G
ENST00000700436.1:c.*168A>G	ENSP00000514987.1:n.*168A>G
ENST00000700437.1:c.964A>G	ENSP00000514988.1:p.Asn322Asp
ENST00000700468.1:c.1102A>G	ENSP00000515001.1:p.Asn368Asp
ENST00000700469.1:c.1201A>G	ENSP00000515002.1:p.Asn401Asp
ENST00000324501.10:c.1213A>G MANE Select	ENSP00000326366.5:p.Asn405Asp
ENST00000324501.9:c.1213A>G	ENSP00000326366.5:p.Asn405Asp
ENST00000357710.8:c.1201A>G	ENSP00000350342.4:p.Asn401Asp
ENST00000394164.5:c.1201A>G	ENSP00000377719.1:p.Asn401Asp
ENST00000406768.1:c.937A>G	ENSP00000385948.1:p.Asn313Asp
ENST00000555386.5:c.1293A>G	ENSP00000450845.1:n.1293A>G
ENST00000555867.1:n.578A>G
ENST00000557511.5:c.1039A>G	ENSP00000451429.1:p.Asn347Asp
NM_000021.3:c.1213A>G	NP_000012.1:p.Asn405Asp
NM_007318.2:c.1201A>G	NP_015557.2:p.Asn401Asp
XM_005267864.1:c.1213A>G	XP_005267921.1:p.Asn405Asp
XM_005267866.1:c.1201A>G	XP_005267923.1:p.Asn401Asp
XM_011536971.1:c.1213A>G	XP_011535273.1:p.Asn405Asp
XM_011536972.1:c.1213A>G	XP_011535274.1:p.Asn405Asp
XM_011536973.1:c.1201A>G	XP_011535275.1:p.Asn401Asp
XM_011536974.1:c.1201A>G	XP_011535276.1:p.Asn401Asp
XM_005267864.3:c.1213A>G	XP_005267921.1:p.Asn405Asp
XM_005267866.2:c.1201A>G	XP_005267923.1:p.Asn401Asp
XM_011536972.2:c.1213A>G	XP_011535274.1:p.Asn405Asp
XM_011536973.2:c.1201A>G	XP_011535275.1:p.Asn401Asp
XM_011536974.2:c.1201A>G	XP_011535276.1:p.Asn401Asp
NM_000021.4:c.1213A>G MANE Select	NP_000012.1:p.Asn405Asp
NM_007318.3:c.1201A>G	NP_015557.2:p.Asn401Asp