Canonical Allele Identifier: CA7256818
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs3025786

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73198010T>C , CM000676.2:g.73198010T>C GRCh38
NC_000014.8:g.73664718T>C , CM000676.1:g.73664718T>C GRCh37
NC_000014.7:g.72734471T>C NCBI36
NG_007386.2:g.66540T>C

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.770-21T>C VV NP_000012.1:p.=
NM_007318.2:c.758-21T>C VV NP_015557.2:p.=
XM_005267864.1:c.770-21T>C XP_005267921.1:p.=
XM_005267866.1:c.758-21T>C XP_005267923.1:p.=
XM_011536971.1:c.770-21T>C XP_011535273.1:p.=
XM_011536972.1:c.770-21T>C XP_011535274.1:p.=
XM_011536973.1:c.758-21T>C XP_011535275.1:p.=
XM_011536974.1:c.758-21T>C XP_011535276.1:p.=
XM_005267864.3:c.770-21T>C XP_005267921.1:p.=
XM_005267866.2:c.758-21T>C XP_005267923.1:p.=
XM_011536972.2:c.770-21T>C XP_011535274.1:p.=
XM_011536973.2:c.758-21T>C XP_011535275.1:p.=
XM_011536974.2:c.758-21T>C XP_011535276.1:p.=
NM_000021.4:c.770-21T>C VV MANE Preferred NP_000012.1:p.=
ENST00000324501.9:c.770-21T>C ENSP00000326366.5:p.=
ENST00000357710.8:c.758-21T>C ENSP00000350342.4:p.=
ENST00000394164.5:c.758-21T>C ENSP00000377719.1:p.=
ENST00000406768.1:c.494-21T>C ENSP00000385948.1:p.=
ENST00000553855.5:n.770-21T>C ENSP00000452242.1:p.=
ENST00000554995.1:n.301T>C
ENST00000555386.5:n.758-21T>C ENSP00000450845.1:p.=
ENST00000557511.5:n.770-21T>C ENSP00000451429.1:p.=