Canonical Allele Identifier: CA2146470849

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173490C>T , CM000676.2:g.73173490C>T	GRCh38
NC_000014.8:g.73640198C>T , CM000676.1:g.73640198C>T	GRCh37
NC_000014.7:g.72709951C>T	NCBI36
NG_007386.2:g.42020C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.339-76C>T MANE Select	ENSP00000326366.5:n.339-76C>T
ENST00000324501.9:c.339-76C>T	ENSP00000326366.5:n.339-76C>T
ENST00000357710.8:c.327-76C>T	ENSP00000350342.4:n.327-76C>T
ENST00000394157.7:c.339-76C>T	ENSP00000377712.3:n.339-76C>T
ENST00000394164.5:c.327-76C>T	ENSP00000377719.1:n.327-76C>T
ENST00000406768.1:c.63-76C>T	ENSP00000385948.1:n.63-76C>T
ENST00000553719.5:c.327-76C>T	ENSP00000451674.1:n.327-76C>T
ENST00000553855.5:c.339-76C>T	ENSP00000452242.1:n.339-76C>T
ENST00000555254.5:c.339-76C>T	ENSP00000450652.1:n.339-76C>T
ENST00000555386.5:c.327-76C>T	ENSP00000450845.1:n.327-76C>T
ENST00000557356.5:c.327-76C>T	ENSP00000451498.1:n.327-76C>T
ENST00000557511.5:c.339-76C>T	ENSP00000451429.1:n.339-76C>T
ENST00000559361.5:c.*283-76C>T	ENSP00000454156.1:n.*283-76C>T
NM_000021.3:c.339-76C>T	NP_000012.1:n.339-76C>T
NM_007318.2:c.327-76C>T	NP_015557.2:n.327-76C>T
XM_005267864.1:c.339-76C>T	XP_005267921.1:n.339-76C>T
XM_005267866.1:c.327-76C>T	XP_005267923.1:n.327-76C>T
XM_011536971.1:c.339-76C>T	XP_011535273.1:n.339-76C>T
XM_011536972.1:c.339-76C>T	XP_011535274.1:n.339-76C>T
XM_011536973.1:c.327-76C>T	XP_011535275.1:n.327-76C>T
XM_011536974.1:c.327-76C>T	XP_011535276.1:n.327-76C>T
XM_005267864.3:c.339-76C>T	XP_005267921.1:n.339-76C>T
XM_005267866.2:c.327-76C>T	XP_005267923.1:n.327-76C>T
XM_011536972.2:c.339-76C>T	XP_011535274.1:n.339-76C>T
XM_011536973.2:c.327-76C>T	XP_011535275.1:n.327-76C>T
XM_011536974.2:c.327-76C>T	XP_011535276.1:n.327-76C>T
NM_000021.4:c.339-76C>T MANE Select	NP_000012.1:n.339-76C>T
NM_007318.3:c.327-76C>T	NP_015557.2:n.327-76C>T