Canonical Allele Identifier: CA409806575
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897663C>G , CM000683.2:g.25897663C>G GRCh38
NC_000021.8:g.27269975C>G , CM000683.1:g.27269975C>G GRCh37
NC_000021.7:g.26191846C>G NCBI36
NG_007376.1:g.278158G>C
NG_007376.2:g.278466G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1941G>C
ENST00000707133.1:n.371G>C
ENST00000707134.1:n.640G>C
ENST00000346798.8:c.1974G>C MANE Select ENSP00000284981.4:p.Leu658Phe
ENST00000346798.7:c.1974G>C ENSP00000284981.4:p.Leu658Phe
ENST00000348990.9:c.1749G>C ENSP00000345463.5:p.Leu583Phe
ENST00000354192.7:c.1581G>C ENSP00000346129.3:p.Leu527Phe
ENST00000357903.7:c.1917G>C ENSP00000350578.3:p.Leu639Phe
ENST00000358918.7:c.1920G>C ENSP00000351796.3:p.Leu640Phe
ENST00000359726.7:c.1644G>C ENSP00000352760.4:p.Leu548Phe
ENST00000439274.6:c.1806G>C ENSP00000398879.2:p.Leu602Phe
ENST00000440126.7:c.1902G>C ENSP00000387483.2:p.Leu634Phe
ENST00000464867.1:n.321G>C
NM_000484.3:c.1974G>C NP_000475.1:p.Leu658Phe
NM_001136016.3:c.1902G>C NP_001129488.1:p.Leu634Phe
NM_001136129.2:c.1581G>C NP_001129601.1:p.Leu527Phe
NM_001136130.2:c.1806G>C NP_001129602.1:p.Leu602Phe
NM_001136131.2:c.1644G>C NP_001129603.1:p.Leu548Phe
NM_001204301.1:c.1920G>C NP_001191230.1:p.Leu640Phe
NM_001204302.1:c.1863G>C NP_001191231.1:p.Leu621Phe
NM_001204303.1:c.1695G>C NP_001191232.1:p.Leu565Phe
NM_201413.2:c.1917G>C NP_958816.1:p.Leu639Phe
NM_201414.2:c.1749G>C NP_958817.1:p.Leu583Phe
NM_000484.4:c.1974G>C MANE Select NP_000475.1:p.Leu658Phe
NM_001136129.3:c.1581G>C NP_001129601.1:p.Leu527Phe
NM_001136130.3:c.1806G>C NP_001129602.1:p.Leu602Phe
NM_001204301.2:c.1920G>C NP_001191230.1:p.Leu640Phe
NM_001204302.2:c.1863G>C NP_001191231.1:p.Leu621Phe
NM_001204303.2:c.1695G>C NP_001191232.1:p.Leu565Phe
NM_201413.3:c.1917G>C NP_958816.1:p.Leu639Phe
NM_201414.3:c.1749G>C NP_958817.1:p.Leu583Phe
NM_001136131.3:c.1644G>C NP_001129603.1:p.Leu548Phe
NM_001385253.1:c.1806G>C NP_001372182.1:p.Leu602Phe