Canonical Allele Identifier: CA262598420
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs201552708

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136462G>C , CM000676.2:g.73136462G>C GRCh38
NC_000014.8:g.73603170G>C , CM000676.1:g.73603170G>C GRCh37
NC_000014.7:g.72672923G>C NCBI36
NG_007386.2:g.4992G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.-299G>C ENSP00000452477.2:n.-299G>C
ENST00000555386.6:c.-257G>C ENSP00000450845.1:n.-257G>C
ENST00000556011.6:c.-299G>C ENSP00000451662.2:n.-299G>C
ENST00000556951.6:c.-253G>C ENSP00000450551.2:n.-253G>C
ENST00000557293.6:c.-253G>C ENSP00000451880.2:n.-253G>C
ENST00000697912.1:c.-257G>C ENSP00000513477.1:n.-257G>C
ENST00000700265.1:c.-104+14G>C ENSP00000514901.1:n.-104+14G>C
ENST00000700266.1:c.-257G>C ENSP00000514902.1:n.-257G>C
ENST00000700267.1:c.-136+14G>C ENSP00000514903.1:n.-136+14G>C
ENST00000700268.1:c.-253G>C ENSP00000514904.1:n.-253G>C
ENST00000700269.1:c.-299G>C ENSP00000514905.1:n.-299G>C
ENST00000700270.1:n.12G>C
ENST00000700271.1:c.-257G>C ENSP00000514906.1:n.-257G>C
ENST00000700272.1:c.-253G>C ENSP00000514907.1:n.-253G>C
ENST00000700273.1:c.-299G>C ENSP00000514908.1:n.-299G>C
ENST00000700302.1:c.-257G>C ENSP00000514929.1:n.-257G>C
ENST00000700303.1:c.-257G>C ENSP00000514930.1:n.-257G>C
ENST00000700304.1:c.-257G>C ENSP00000514931.1:n.-257G>C
ENST00000700305.1:c.-257G>C ENSP00000514932.1:n.-257G>C
ENST00000700374.1:n.2G>C
ENST00000324501.9:c.-257G>C ENSP00000326366.5:n.-257G>C
ENST00000357710.8:c.-257G>C ENSP00000350342.4:n.-257G>C
ENST00000394157.7:c.-257G>C ENSP00000377712.3:n.-257G>C
ENST00000553599.5:c.-299G>C ENSP00000452477.1:n.-299G>C
ENST00000553719.5:c.-253G>C ENSP00000451674.1:n.-253G>C
ENST00000555254.5:c.-281G>C ENSP00000450652.1:n.-281G>C
ENST00000556011.5:c.-299G>C ENSP00000451662.1:n.-299G>C
ENST00000556533.5:c.-246G>C ENSP00000452128.1:n.-246G>C
ENST00000556864.5:c.-356G>C ENSP00000451588.1:n.-356G>C
ENST00000556951.5:c.-253G>C ENSP00000450551.1:n.-253G>C
ENST00000557293.5:c.-253G>C ENSP00000451880.1:n.-253G>C
ENST00000557356.5:c.-136+14G>C ENSP00000451498.1:n.-136+14G>C
ENST00000560005.6:c.-359G>C ENSP00000453466.1:n.-359G>C
NM_000021.3:c.-257G>C NP_000012.1:n.-257G>C
NM_007318.2:c.-257G>C NP_015557.2:n.-257G>C
XM_005267864.1:c.-253G>C XP_005267921.1:n.-253G>C
XM_005267866.1:c.-253G>C XP_005267923.1:n.-253G>C
XM_005267864.3:c.-253G>C XP_005267921.1:n.-253G>C
XM_005267866.2:c.-253G>C XP_005267923.1:n.-253G>C