Canonical Allele Identifier: CA409805482
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891753T>A , CM000683.2:g.25891753T>A GRCh38
NC_000021.8:g.27264065T>A , CM000683.1:g.27264065T>A GRCh37
NC_000021.7:g.26185936T>A NCBI36
NG_007376.1:g.284068A>T
NG_007376.2:g.284376A>T

Transcript Alleles

HGVS Amino-acid change
NM_000484.3:c.2180A>T NP_000475.1:p.Gln727Leu
NM_001136016.3:c.2108A>T NP_001129488.1:p.Gln703Leu
NM_001136129.2:c.1787A>T NP_001129601.1:p.Gln596Leu
NM_001136130.2:c.2012A>T NP_001129602.1:p.Gln671Leu
NM_001136131.2:c.1850A>T NP_001129603.1:p.Gln617Leu
NM_001204301.1:c.2126A>T NP_001191230.1:p.Gln709Leu
NM_001204302.1:c.2069A>T NP_001191231.1:p.Gln690Leu
NM_001204303.1:c.1901A>T NP_001191232.1:p.Gln634Leu
NM_201413.2:c.2123A>T NP_958816.1:p.Gln708Leu
NM_201414.2:c.1955A>T NP_958817.1:p.Gln652Leu
NM_000484.4:c.2180A>T MANE Select NP_000475.1:p.Gln727Leu
NM_001136129.3:c.1787A>T NP_001129601.1:p.Gln596Leu
NM_001136130.3:c.2012A>T NP_001129602.1:p.Gln671Leu
NM_001204301.2:c.2126A>T NP_001191230.1:p.Gln709Leu
NM_001204302.2:c.2069A>T NP_001191231.1:p.Gln690Leu
NM_001204303.2:c.1901A>T NP_001191232.1:p.Gln634Leu
NM_201413.3:c.2123A>T NP_958816.1:p.Gln708Leu
NM_201414.3:c.1955A>T NP_958817.1:p.Gln652Leu
NM_001136131.3:c.1850A>T NP_001129603.1:p.Gln617Leu
NM_001385253.1:c.2012A>T NP_001372182.1:p.Gln671Leu
ENST00000346798.7:c.2180A>T ENSP00000284981.4:p.Gln727Leu
ENST00000348990.9:c.1955A>T ENSP00000345463.5:p.Gln652Leu
ENST00000354192.7:c.1787A>T ENSP00000346129.3:p.Gln596Leu
ENST00000357903.7:c.2123A>T ENSP00000350578.3:p.Gln708Leu
ENST00000358918.7:c.2126A>T ENSP00000351796.3:p.Gln709Leu
ENST00000359726.7:c.1850A>T ENSP00000352760.4:p.Gln617Leu
ENST00000439274.6:c.2012A>T ENSP00000398879.2:p.Gln671Leu
ENST00000440126.7:c.2108A>T ENSP00000387483.2:p.Gln703Leu
ENST00000464867.1:n.527A>T