Canonical Allele Identifier: CA2146485645

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219192C= , CM000676.2:g.73219192C=	GRCh38
NC_000014.8:g.73685900C= , CM000676.1:g.73685900C=	GRCh37
NC_000014.7:g.72755653C=	NCBI36
NG_007386.2:g.87722C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.1307C= MANE Select	ENSP00000326366.5:p.Pro436=
ENST00000324501.9:c.1307C=	ENSP00000326366.5:p.Pro436=
ENST00000357710.8:c.1295C=	ENSP00000350342.4:p.Pro432=
ENST00000394164.5:c.1295C=	ENSP00000377719.1:p.Pro432=
ENST00000406768.1:c.1031C=	ENSP00000385948.1:p.Pro344=
ENST00000555386.5:c.1387C=	ENSP00000450845.1:n.1387C=
ENST00000555867.1:n.672C=
ENST00000557511.5:c.1133C=	ENSP00000451429.1:p.Pro378=
NM_000021.3:c.1307C=	NP_000012.1:p.Pro436=
NM_007318.2:c.1295C=	NP_015557.2:p.Pro432=
XM_005267864.1:c.1307C=	XP_005267921.1:p.Pro436=
XM_005267866.1:c.1295C=	XP_005267923.1:p.Pro432=
XM_011536971.1:c.1307C=	XP_011535273.1:p.Pro436=
XM_011536972.1:c.1307C=	XP_011535274.1:p.Pro436=
XM_011536973.1:c.1295C=	XP_011535275.1:p.Pro432=
XM_011536974.1:c.1295C=	XP_011535276.1:p.Pro432=
XM_005267864.3:c.1307C=	XP_005267921.1:p.Pro436=
XM_005267866.2:c.1295C=	XP_005267923.1:p.Pro432=
XM_011536972.2:c.1307C=	XP_011535274.1:p.Pro436=
XM_011536973.2:c.1295C=	XP_011535275.1:p.Pro432=
XM_011536974.2:c.1295C=	XP_011535276.1:p.Pro432=
NM_000021.4:c.1307C= MANE Select	NP_000012.1:p.Pro436=
NM_007318.3:c.1295C=	NP_015557.2:p.Pro432=