Canonical Allele Identifier: CA409805611
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891819A>G , CM000683.2:g.25891819A>G GRCh38
NC_000021.8:g.27264131A>G , CM000683.1:g.27264131A>G GRCh37
NC_000021.7:g.26186002A>G NCBI36
NG_007376.1:g.284002T>C
NG_007376.2:g.284310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2081T>C
ENST00000707133.1:n.511T>C
ENST00000707134.1:n.780T>C
ENST00000346798.8:c.2114T>C MANE Select ENSP00000284981.4:p.Leu705Pro
ENST00000346798.7:c.2114T>C ENSP00000284981.4:p.Leu705Pro
ENST00000348990.9:c.1889T>C ENSP00000345463.5:p.Leu630Pro
ENST00000354192.7:c.1721T>C ENSP00000346129.3:p.Leu574Pro
ENST00000357903.7:c.2057T>C ENSP00000350578.3:p.Leu686Pro
ENST00000358918.7:c.2060T>C ENSP00000351796.3:p.Leu687Pro
ENST00000359726.7:c.1784T>C ENSP00000352760.4:p.Leu595Pro
ENST00000439274.6:c.1946T>C ENSP00000398879.2:p.Leu649Pro
ENST00000440126.7:c.2042T>C ENSP00000387483.2:p.Leu681Pro
ENST00000464867.1:n.461T>C
NM_000484.3:c.2114T>C NP_000475.1:p.Leu705Pro
NM_001136016.3:c.2042T>C NP_001129488.1:p.Leu681Pro
NM_001136129.2:c.1721T>C NP_001129601.1:p.Leu574Pro
NM_001136130.2:c.1946T>C NP_001129602.1:p.Leu649Pro
NM_001136131.2:c.1784T>C NP_001129603.1:p.Leu595Pro
NM_001204301.1:c.2060T>C NP_001191230.1:p.Leu687Pro
NM_001204302.1:c.2003T>C NP_001191231.1:p.Leu668Pro
NM_001204303.1:c.1835T>C NP_001191232.1:p.Leu612Pro
NM_201413.2:c.2057T>C NP_958816.1:p.Leu686Pro
NM_201414.2:c.1889T>C NP_958817.1:p.Leu630Pro
NM_000484.4:c.2114T>C MANE Select NP_000475.1:p.Leu705Pro
NM_001136129.3:c.1721T>C NP_001129601.1:p.Leu574Pro
NM_001136130.3:c.1946T>C NP_001129602.1:p.Leu649Pro
NM_001204301.2:c.2060T>C NP_001191230.1:p.Leu687Pro
NM_001204302.2:c.2003T>C NP_001191231.1:p.Leu668Pro
NM_001204303.2:c.1835T>C NP_001191232.1:p.Leu612Pro
NM_201413.3:c.2057T>C NP_958816.1:p.Leu686Pro
NM_201414.3:c.1889T>C NP_958817.1:p.Leu630Pro
NM_001136131.3:c.1784T>C NP_001129603.1:p.Leu595Pro
NM_001385253.1:c.1946T>C NP_001372182.1:p.Leu649Pro