Canonical Allele Identifier: CA262598458

Gene: PSEN1

Linked Data

• dbSNP Id: rs199689757
• gnomAD v2: 14-73603190-G-C
• gnomAD v3: 14-73136482-G-C
• gnomAD v4: 14-73136482-G-C
• MyVariant Identifiers: chr14:g.73603190G>C (hg19) ; chr14:g.73136482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136482G>C , CM000676.2:g.73136482G>C	GRCh38
NC_000014.8:g.73603190G>C , CM000676.1:g.73603190G>C	GRCh37
NC_000014.7:g.72672943G>C	NCBI36
NG_007386.2:g.5012G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553447.7:c.-274G>C	ENSP00000514869.1:n.-274G>C
ENST00000553599.6:c.-279G>C	ENSP00000452477.2:n.-279G>C
ENST00000555386.6:c.-237G>C	ENSP00000450845.1:n.-237G>C
ENST00000556011.6:c.-279G>C	ENSP00000451662.2:n.-279G>C
ENST00000556951.6:c.-233G>C	ENSP00000450551.2:n.-233G>C
ENST00000557293.6:c.-233G>C	ENSP00000451880.2:n.-233G>C
ENST00000697912.1:c.-237G>C	ENSP00000513477.1:n.-237G>C
ENST00000697913.1:n.18G>C
ENST00000700265.1:c.-104+34G>C	ENSP00000514901.1:n.-104+34G>C
ENST00000700266.1:c.-237G>C	ENSP00000514902.1:n.-237G>C
ENST00000700267.1:c.-136+34G>C	ENSP00000514903.1:n.-136+34G>C
ENST00000700268.1:c.-233G>C	ENSP00000514904.1:n.-233G>C
ENST00000700269.1:c.-279G>C	ENSP00000514905.1:n.-279G>C
ENST00000700270.1:n.32G>C
ENST00000700271.1:c.-237G>C	ENSP00000514906.1:n.-237G>C
ENST00000700272.1:c.-233G>C	ENSP00000514907.1:n.-233G>C
ENST00000700273.1:c.-279G>C	ENSP00000514908.1:n.-279G>C
ENST00000700302.1:c.-237G>C	ENSP00000514929.1:n.-237G>C
ENST00000700303.1:c.-237G>C	ENSP00000514930.1:n.-237G>C
ENST00000700304.1:c.-237G>C	ENSP00000514931.1:n.-237G>C
ENST00000700305.1:c.-237G>C	ENSP00000514932.1:n.-237G>C
ENST00000700306.1:c.-279G>C	ENSP00000514933.1:n.-279G>C
ENST00000700307.1:c.-237G>C	ENSP00000514934.1:n.-237G>C
ENST00000700374.1:n.22G>C
ENST00000700388.1:n.11G>C
ENST00000700389.1:c.-402G>C	ENSP00000514970.1:n.-402G>C
ENST00000324501.9:c.-237G>C	ENSP00000326366.5:n.-237G>C
ENST00000357710.8:c.-237G>C	ENSP00000350342.4:n.-237G>C
ENST00000394157.7:c.-237G>C	ENSP00000377712.3:n.-237G>C
ENST00000553447.6:n.6G>C
ENST00000553599.5:c.-279G>C	ENSP00000452477.1:n.-279G>C
ENST00000553719.5:c.-233G>C	ENSP00000451674.1:n.-233G>C
ENST00000555254.5:c.-261G>C	ENSP00000450652.1:n.-261G>C
ENST00000556011.5:c.-279G>C	ENSP00000451662.1:n.-279G>C
ENST00000556533.5:c.-226G>C	ENSP00000452128.1:n.-226G>C
ENST00000556864.5:c.-336G>C	ENSP00000451588.1:n.-336G>C
ENST00000556951.5:c.-233G>C	ENSP00000450551.1:n.-233G>C
ENST00000557293.5:c.-233G>C	ENSP00000451880.1:n.-233G>C
ENST00000557356.5:c.-136+34G>C	ENSP00000451498.1:n.-136+34G>C
ENST00000560005.6:c.-339G>C	ENSP00000453466.1:n.-339G>C
NM_000021.3:c.-237G>C	NP_000012.1:n.-237G>C
NM_007318.2:c.-237G>C	NP_015557.2:n.-237G>C
XM_005267864.1:c.-233G>C	XP_005267921.1:n.-233G>C
XM_005267866.1:c.-233G>C	XP_005267923.1:n.-233G>C
XM_005267864.3:c.-233G>C	XP_005267921.1:n.-233G>C
XM_005267866.2:c.-233G>C	XP_005267923.1:n.-233G>C