Canonical Allele Identifier: CA225003
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98016
ClinVar RCV Id: RCV000084296
dbSNP Id: rs63750730

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73173574C>T , CM000676.2:g.73173574C>T GRCh38
NC_000014.8:g.73640282C>T , CM000676.1:g.73640282C>T GRCh37
NC_000014.7:g.72710035C>T NCBI36
NG_007386.2:g.42104C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.347C>T MANE Select ENSP00000326366.5:p.Thr116Ile
ENST00000324501.9:c.347C>T ENSP00000326366.5:p.Thr116Ile
ENST00000357710.8:c.335C>T ENSP00000350342.4:p.Thr112Ile
ENST00000394157.7:c.347C>T ENSP00000377712.3:p.Thr116Ile
ENST00000394164.5:c.335C>T ENSP00000377719.1:p.Thr112Ile
ENST00000406768.1:c.71C>T ENSP00000385948.1:p.Thr24Ile
ENST00000553719.5:c.335C>T ENSP00000451674.1:p.Thr112Ile
ENST00000553855.5:n.347C>T ENSP00000452242.1:p.Thr116Ile
ENST00000555254.5:c.347C>T ENSP00000450652.1:p.Thr116Ile
ENST00000555386.5:n.335C>T ENSP00000450845.1:p.Thr112Ile
ENST00000557356.5:c.335C>T ENSP00000451498.1:p.Thr112Ile
ENST00000557511.5:n.347C>T ENSP00000451429.1:p.Thr116Ile
ENST00000559361.5:c.*291C>T ENSP00000454156.1:n.*291C>T
NM_000021.3:c.347C>T NP_000012.1:p.Thr116Ile
NM_007318.2:c.335C>T NP_015557.2:p.Thr112Ile
XM_005267864.1:c.347C>T XP_005267921.1:p.Thr116Ile
XM_005267866.1:c.335C>T XP_005267923.1:p.Thr112Ile
XM_011536971.1:c.347C>T XP_011535273.1:p.Thr116Ile
XM_011536972.1:c.347C>T XP_011535274.1:p.Thr116Ile
XM_011536973.1:c.335C>T XP_011535275.1:p.Thr112Ile
XM_011536974.1:c.335C>T XP_011535276.1:p.Thr112Ile
XM_005267864.3:c.347C>T XP_005267921.1:p.Thr116Ile
XM_005267866.2:c.335C>T XP_005267923.1:p.Thr112Ile
XM_011536972.2:c.347C>T XP_011535274.1:p.Thr116Ile
XM_011536973.2:c.335C>T XP_011535275.1:p.Thr112Ile
XM_011536974.2:c.335C>T XP_011535276.1:p.Thr112Ile
NM_000021.4:c.347C>T MANE Select NP_000012.1:p.Thr116Ile
NM_007318.3:c.335C>T NP_015557.2:p.Thr112Ile