Canonical Allele Identifier: CA262598488

Gene: PSEN1

Linked Data

• dbSNP Id: rs986574902
• gnomAD v4: 14-73136513-A-G
• MyVariant Identifiers: chr14:g.73603221A>G (hg19) ; chr14:g.73136513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136513A>G , CM000676.2:g.73136513A>G	GRCh38
NC_000014.8:g.73603221A>G , CM000676.1:g.73603221A>G	GRCh37
NC_000014.7:g.72672974A>G	NCBI36
NG_007386.2:g.5043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-243A>G	ENSP00000514869.1:n.-243A>G
ENST00000553599.6:c.-248A>G	ENSP00000452477.2:n.-248A>G
ENST00000554131.6:c.-247A>G	ENSP00000451915.2:n.-247A>G
ENST00000555386.6:c.-206A>G	ENSP00000450845.1:n.-206A>G
ENST00000556011.6:c.-248A>G	ENSP00000451662.2:n.-248A>G
ENST00000556951.6:c.-202A>G	ENSP00000450551.2:n.-202A>G
ENST00000557293.6:c.-202A>G	ENSP00000451880.2:n.-202A>G
ENST00000697912.1:c.-206A>G	ENSP00000513477.1:n.-206A>G
ENST00000697913.1:n.49A>G
ENST00000697914.1:n.7A>G
ENST00000700265.1:c.-104+65A>G	ENSP00000514901.1:n.-104+65A>G
ENST00000700266.1:c.-206A>G	ENSP00000514902.1:n.-206A>G
ENST00000700267.1:c.-136+65A>G	ENSP00000514903.1:n.-136+65A>G
ENST00000700268.1:c.-202A>G	ENSP00000514904.1:n.-202A>G
ENST00000700269.1:c.-248A>G	ENSP00000514905.1:n.-248A>G
ENST00000700270.1:n.63A>G
ENST00000700271.1:c.-206A>G	ENSP00000514906.1:n.-206A>G
ENST00000700272.1:c.-202A>G	ENSP00000514907.1:n.-202A>G
ENST00000700273.1:c.-248A>G	ENSP00000514908.1:n.-248A>G
ENST00000700302.1:c.-206A>G	ENSP00000514929.1:n.-206A>G
ENST00000700303.1:c.-206A>G	ENSP00000514930.1:n.-206A>G
ENST00000700304.1:c.-206A>G	ENSP00000514931.1:n.-206A>G
ENST00000700305.1:c.-206A>G	ENSP00000514932.1:n.-206A>G
ENST00000700306.1:c.-248A>G	ENSP00000514933.1:n.-248A>G
ENST00000700307.1:c.-206A>G	ENSP00000514934.1:n.-206A>G
ENST00000700308.1:c.-206A>G	ENSP00000514935.1:n.-206A>G
ENST00000700309.1:c.-206A>G	ENSP00000514936.1:n.-206A>G
ENST00000700310.1:c.-206A>G	ENSP00000514937.1:n.-206A>G
ENST00000700311.1:c.-247A>G	ENSP00000514938.1:n.-247A>G
ENST00000700312.1:c.-355A>G	ENSP00000514939.1:n.-355A>G
ENST00000700313.1:c.-243A>G	ENSP00000514940.1:n.-243A>G
ENST00000700314.1:c.-206A>G	ENSP00000514941.1:n.-206A>G
ENST00000700315.1:c.-206A>G	ENSP00000514942.1:n.-206A>G
ENST00000700316.1:c.-206A>G	ENSP00000514943.1:n.-206A>G
ENST00000700317.1:c.-174A>G	ENSP00000514944.1:n.-174A>G
ENST00000700318.1:c.-206A>G	ENSP00000514945.1:n.-206A>G
ENST00000700319.1:c.-206A>G	ENSP00000514946.1:n.-206A>G
ENST00000700320.1:c.-206A>G	ENSP00000514947.1:n.-206A>G
ENST00000700321.1:c.-208A>G	ENSP00000514948.1:n.-208A>G
ENST00000700322.1:c.-174A>G	ENSP00000514949.1:n.-174A>G
ENST00000700323.1:c.-252A>G	ENSP00000514950.1:n.-252A>G
ENST00000700374.1:n.53A>G
ENST00000700388.1:n.42A>G
ENST00000700389.1:c.-371A>G	ENSP00000514970.1:n.-371A>G
ENST00000324501.10:c.-206A>G MANE Select	ENSP00000326366.5:n.-206A>G
ENST00000324501.9:c.-206A>G	ENSP00000326366.5:n.-206A>G
ENST00000357710.8:c.-206A>G	ENSP00000350342.4:n.-206A>G
ENST00000394157.7:c.-206A>G	ENSP00000377712.3:n.-206A>G
ENST00000553447.6:n.37A>G
ENST00000553599.5:c.-248A>G	ENSP00000452477.1:n.-248A>G
ENST00000553719.5:c.-202A>G	ENSP00000451674.1:n.-202A>G
ENST00000554131.5:c.-247A>G	ENSP00000451915.1:n.-247A>G
ENST00000555254.5:c.-230A>G	ENSP00000450652.1:n.-230A>G
ENST00000556011.5:c.-248A>G	ENSP00000451662.1:n.-248A>G
ENST00000556533.5:c.-195A>G	ENSP00000452128.1:n.-195A>G
ENST00000556864.5:c.-305A>G	ENSP00000451588.1:n.-305A>G
ENST00000556951.5:c.-202A>G	ENSP00000450551.1:n.-202A>G
ENST00000557293.5:c.-202A>G	ENSP00000451880.1:n.-202A>G
ENST00000557356.5:c.-136+65A>G	ENSP00000451498.1:n.-136+65A>G
ENST00000560005.6:c.-308A>G	ENSP00000453466.1:n.-308A>G
NM_000021.3:c.-206A>G	NP_000012.1:n.-206A>G
NM_007318.2:c.-206A>G	NP_015557.2:n.-206A>G
XM_005267864.1:c.-202A>G	XP_005267921.1:n.-202A>G
XM_005267866.1:c.-202A>G	XP_005267923.1:n.-202A>G
XM_005267864.3:c.-202A>G	XP_005267921.1:n.-202A>G
XM_005267866.2:c.-202A>G	XP_005267923.1:n.-202A>G
NM_000021.4:c.-206A>G MANE Select	NP_000012.1:n.-206A>G
NM_007318.3:c.-206A>G	NP_015557.2:n.-206A>G