Canonical Allele Identifier: CA409806577
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897664A>G , CM000683.2:g.25897664A>G GRCh38
NC_000021.8:g.27269976A>G , CM000683.1:g.27269976A>G GRCh37
NC_000021.7:g.26191847A>G NCBI36
NG_007376.1:g.278157T>C
NG_007376.2:g.278465T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1940T>C
ENST00000707133.1:n.370T>C
ENST00000707134.1:n.639T>C
ENST00000346798.8:c.1973T>C MANE Select ENSP00000284981.4:p.Leu658Ser
ENST00000346798.7:c.1973T>C ENSP00000284981.4:p.Leu658Ser
ENST00000348990.9:c.1748T>C ENSP00000345463.5:p.Leu583Ser
ENST00000354192.7:c.1580T>C ENSP00000346129.3:p.Leu527Ser
ENST00000357903.7:c.1916T>C ENSP00000350578.3:p.Leu639Ser
ENST00000358918.7:c.1919T>C ENSP00000351796.3:p.Leu640Ser
ENST00000359726.7:c.1643T>C ENSP00000352760.4:p.Leu548Ser
ENST00000439274.6:c.1805T>C ENSP00000398879.2:p.Leu602Ser
ENST00000440126.7:c.1901T>C ENSP00000387483.2:p.Leu634Ser
ENST00000464867.1:n.320T>C
NM_000484.3:c.1973T>C NP_000475.1:p.Leu658Ser
NM_001136016.3:c.1901T>C NP_001129488.1:p.Leu634Ser
NM_001136129.2:c.1580T>C NP_001129601.1:p.Leu527Ser
NM_001136130.2:c.1805T>C NP_001129602.1:p.Leu602Ser
NM_001136131.2:c.1643T>C NP_001129603.1:p.Leu548Ser
NM_001204301.1:c.1919T>C NP_001191230.1:p.Leu640Ser
NM_001204302.1:c.1862T>C NP_001191231.1:p.Leu621Ser
NM_001204303.1:c.1694T>C NP_001191232.1:p.Leu565Ser
NM_201413.2:c.1916T>C NP_958816.1:p.Leu639Ser
NM_201414.2:c.1748T>C NP_958817.1:p.Leu583Ser
NM_000484.4:c.1973T>C MANE Select NP_000475.1:p.Leu658Ser
NM_001136129.3:c.1580T>C NP_001129601.1:p.Leu527Ser
NM_001136130.3:c.1805T>C NP_001129602.1:p.Leu602Ser
NM_001204301.2:c.1919T>C NP_001191230.1:p.Leu640Ser
NM_001204302.2:c.1862T>C NP_001191231.1:p.Leu621Ser
NM_001204303.2:c.1694T>C NP_001191232.1:p.Leu565Ser
NM_201413.3:c.1916T>C NP_958816.1:p.Leu639Ser
NM_201414.3:c.1748T>C NP_958817.1:p.Leu583Ser
NM_001136131.3:c.1643T>C NP_001129603.1:p.Leu548Ser
NM_001385253.1:c.1805T>C NP_001372182.1:p.Leu602Ser