Canonical Allele Identifier: CA237495
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191767
ClinVar RCV Id: RCV000172095
dbSNP Id: rs200576075

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73171031C>T , CM000676.2:g.73171031C>T GRCh38
NC_000014.8:g.73637739C>T , CM000676.1:g.73637739C>T GRCh37
NC_000014.7:g.72707492C>T NCBI36
NG_007386.2:g.39561C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.322C>T MANE Select ENSP00000326366.5:p.Arg108Trp
ENST00000324501.9:c.322C>T ENSP00000326366.5:p.Arg108Trp
ENST00000357710.8:c.310C>T ENSP00000350342.4:p.Arg104Trp
ENST00000394157.7:c.322C>T ENSP00000377712.3:p.Arg108Trp
ENST00000394164.5:c.310C>T ENSP00000377719.1:p.Arg104Trp
ENST00000406768.1:c.46C>T ENSP00000385948.1:p.Arg16Trp
ENST00000553719.5:c.310C>T ENSP00000451674.1:p.Arg104Trp
ENST00000553855.5:n.322C>T ENSP00000452242.1:p.Arg108Trp
ENST00000554131.5:c.322C>T ENSP00000451915.1:p.Arg108Trp
ENST00000555254.5:c.322C>T ENSP00000450652.1:p.Arg108Trp
ENST00000555386.5:n.310C>T ENSP00000450845.1:p.Arg104Trp
ENST00000557356.5:c.310C>T ENSP00000451498.1:p.Arg104Trp
ENST00000557511.5:n.322C>T ENSP00000451429.1:p.Arg108Trp
ENST00000559361.5:c.*266C>T ENSP00000454156.1:n.*266C>T
ENST00000560005.6:c.310C>T ENSP00000453466.1:p.Arg104Trp
NM_000021.3:c.322C>T NP_000012.1:p.Arg108Trp
NM_007318.2:c.310C>T NP_015557.2:p.Arg104Trp
XM_005267864.1:c.322C>T XP_005267921.1:p.Arg108Trp
XM_005267866.1:c.310C>T XP_005267923.1:p.Arg104Trp
XM_011536971.1:c.322C>T XP_011535273.1:p.Arg108Trp
XM_011536972.1:c.322C>T XP_011535274.1:p.Arg108Trp
XM_011536973.1:c.310C>T XP_011535275.1:p.Arg104Trp
XM_011536974.1:c.310C>T XP_011535276.1:p.Arg104Trp
XM_005267864.3:c.322C>T XP_005267921.1:p.Arg108Trp
XM_005267866.2:c.310C>T XP_005267923.1:p.Arg104Trp
XM_011536972.2:c.322C>T XP_011535274.1:p.Arg108Trp
XM_011536973.2:c.310C>T XP_011535275.1:p.Arg104Trp
XM_011536974.2:c.310C>T XP_011535276.1:p.Arg104Trp
NM_000021.4:c.322C>T MANE Select NP_000012.1:p.Arg108Trp
NM_007318.3:c.310C>T NP_015557.2:p.Arg104Trp