Canonical Allele Identifier: CA225513
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 98241
ClinVar RCV Id: RCV000084577
dbSNP Id: rs63751122

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891765A>G , CM000683.2:g.25891765A>G GRCh38
NC_000021.8:g.27264077A>G , CM000683.1:g.27264077A>G GRCh37
NC_000021.7:g.26185948A>G NCBI36
NG_007376.1:g.284056T>C
NG_007376.2:g.284364T>C

Transcript Alleles

HGVS Amino-acid change
NM_000484.3:c.2168T>C NP_000475.1:p.Leu723Pro
NM_001136016.3:c.2096T>C NP_001129488.1:p.Leu699Pro
NM_001136129.2:c.1775T>C NP_001129601.1:p.Leu592Pro
NM_001136130.2:c.2000T>C NP_001129602.1:p.Leu667Pro
NM_001136131.2:c.1838T>C NP_001129603.1:p.Leu613Pro
NM_001204301.1:c.2114T>C NP_001191230.1:p.Leu705Pro
NM_001204302.1:c.2057T>C NP_001191231.1:p.Leu686Pro
NM_001204303.1:c.1889T>C NP_001191232.1:p.Leu630Pro
NM_201413.2:c.2111T>C NP_958816.1:p.Leu704Pro
NM_201414.2:c.1943T>C NP_958817.1:p.Leu648Pro
NM_000484.4:c.2168T>C MANE Select NP_000475.1:p.Leu723Pro
NM_001136129.3:c.1775T>C NP_001129601.1:p.Leu592Pro
NM_001136130.3:c.2000T>C NP_001129602.1:p.Leu667Pro
NM_001204301.2:c.2114T>C NP_001191230.1:p.Leu705Pro
NM_001204302.2:c.2057T>C NP_001191231.1:p.Leu686Pro
NM_001204303.2:c.1889T>C NP_001191232.1:p.Leu630Pro
NM_201413.3:c.2111T>C NP_958816.1:p.Leu704Pro
NM_201414.3:c.1943T>C NP_958817.1:p.Leu648Pro
NM_001136131.3:c.1838T>C NP_001129603.1:p.Leu613Pro
NM_001385253.1:c.2000T>C NP_001372182.1:p.Leu667Pro
ENST00000346798.7:c.2168T>C ENSP00000284981.4:p.Leu723Pro
ENST00000348990.9:c.1943T>C ENSP00000345463.5:p.Leu648Pro
ENST00000354192.7:c.1775T>C ENSP00000346129.3:p.Leu592Pro
ENST00000357903.7:c.2111T>C ENSP00000350578.3:p.Leu704Pro
ENST00000358918.7:c.2114T>C ENSP00000351796.3:p.Leu705Pro
ENST00000359726.7:c.1838T>C ENSP00000352760.4:p.Leu613Pro
ENST00000439274.6:c.2000T>C ENSP00000398879.2:p.Leu667Pro
ENST00000440126.7:c.2096T>C ENSP00000387483.2:p.Leu699Pro
ENST00000464867.1:n.515T>C