Canonical Allele Identifier: CA7256966
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs760244944

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219112G>A , CM000676.2:g.73219112G>A GRCh38
NC_000014.8:g.73685820G>A , CM000676.1:g.73685820G>A GRCh37
NC_000014.7:g.72755573G>A NCBI36
NG_007386.2:g.87642G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1249-22G>A MANE Select ENSP00000326366.5:n.1249-22G>A
ENST00000324501.9:c.1249-22G>A ENSP00000326366.5:n.1249-22G>A
ENST00000357710.8:c.1237-22G>A ENSP00000350342.4:n.1237-22G>A
ENST00000394164.5:c.1237-22G>A ENSP00000377719.1:n.1237-22G>A
ENST00000406768.1:c.973-22G>A ENSP00000385948.1:n.973-22G>A
ENST00000555386.5:n.1329-22G>A ENSP00000450845.1:n.1329-22G>A
ENST00000555867.1:n.614-22G>A
ENST00000557511.5:n.1075-22G>A ENSP00000451429.1:n.1075-22G>A
NM_000021.3:c.1249-22G>A NP_000012.1:n.1249-22G>A
NM_007318.2:c.1237-22G>A NP_015557.2:n.1237-22G>A
XM_005267864.1:c.1249-22G>A XP_005267921.1:n.1249-22G>A
XM_005267866.1:c.1237-22G>A XP_005267923.1:n.1237-22G>A
XM_011536971.1:c.1249-22G>A XP_011535273.1:n.1249-22G>A
XM_011536972.1:c.1249-22G>A XP_011535274.1:n.1249-22G>A
XM_011536973.1:c.1237-22G>A XP_011535275.1:n.1237-22G>A
XM_011536974.1:c.1237-22G>A XP_011535276.1:n.1237-22G>A
XM_005267864.3:c.1249-22G>A XP_005267921.1:n.1249-22G>A
XM_005267866.2:c.1237-22G>A XP_005267923.1:n.1237-22G>A
XM_011536972.2:c.1249-22G>A XP_011535274.1:n.1249-22G>A
XM_011536973.2:c.1237-22G>A XP_011535275.1:n.1237-22G>A
XM_011536974.2:c.1237-22G>A XP_011535276.1:n.1237-22G>A
NM_000021.4:c.1249-22G>A MANE Select NP_000012.1:n.1249-22G>A
NM_007318.3:c.1237-22G>A NP_015557.2:n.1237-22G>A