Canonical Allele Identifier: CA409805531
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891773C>G , CM000683.2:g.25891773C>G GRCh38
NC_000021.8:g.27264085C>G , CM000683.1:g.27264085C>G GRCh37
NC_000021.7:g.26185956C>G NCBI36
NG_007376.1:g.284048G>C
NG_007376.2:g.284356G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2127G>C
ENST00000707133.1:n.557G>C
ENST00000707134.1:n.826G>C
ENST00000346798.8:c.2160G>C MANE Select ENSP00000284981.4:p.Leu720Phe
ENST00000346798.7:c.2160G>C ENSP00000284981.4:p.Leu720Phe
ENST00000348990.9:c.1935G>C ENSP00000345463.5:p.Leu645Phe
ENST00000354192.7:c.1767G>C ENSP00000346129.3:p.Leu589Phe
ENST00000357903.7:c.2103G>C ENSP00000350578.3:p.Leu701Phe
ENST00000358918.7:c.2106G>C ENSP00000351796.3:p.Leu702Phe
ENST00000359726.7:c.1830G>C ENSP00000352760.4:p.Leu610Phe
ENST00000439274.6:c.1992G>C ENSP00000398879.2:p.Leu664Phe
ENST00000440126.7:c.2088G>C ENSP00000387483.2:p.Leu696Phe
ENST00000464867.1:n.507G>C
NM_000484.3:c.2160G>C NP_000475.1:p.Leu720Phe
NM_001136016.3:c.2088G>C NP_001129488.1:p.Leu696Phe
NM_001136129.2:c.1767G>C NP_001129601.1:p.Leu589Phe
NM_001136130.2:c.1992G>C NP_001129602.1:p.Leu664Phe
NM_001136131.2:c.1830G>C NP_001129603.1:p.Leu610Phe
NM_001204301.1:c.2106G>C NP_001191230.1:p.Leu702Phe
NM_001204302.1:c.2049G>C NP_001191231.1:p.Leu683Phe
NM_001204303.1:c.1881G>C NP_001191232.1:p.Leu627Phe
NM_201413.2:c.2103G>C NP_958816.1:p.Leu701Phe
NM_201414.2:c.1935G>C NP_958817.1:p.Leu645Phe
NM_000484.4:c.2160G>C MANE Select NP_000475.1:p.Leu720Phe
NM_001136129.3:c.1767G>C NP_001129601.1:p.Leu589Phe
NM_001136130.3:c.1992G>C NP_001129602.1:p.Leu664Phe
NM_001204301.2:c.2106G>C NP_001191230.1:p.Leu702Phe
NM_001204302.2:c.2049G>C NP_001191231.1:p.Leu683Phe
NM_001204303.2:c.1881G>C NP_001191232.1:p.Leu627Phe
NM_201413.3:c.2103G>C NP_958816.1:p.Leu701Phe
NM_201414.3:c.1935G>C NP_958817.1:p.Leu645Phe
NM_001136131.3:c.1830G>C NP_001129603.1:p.Leu610Phe
NM_001385253.1:c.1992G>C NP_001372182.1:p.Leu664Phe