Canonical Allele Identifier: CA2654122262
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891597G>A , CM000683.2:g.25891597G>A GRCh38
NC_000021.8:g.27263909G>A , CM000683.1:g.27263909G>A GRCh37
NC_000021.7:g.26185780G>A NCBI36
NG_007376.1:g.284224C>T
NG_007376.2:g.284532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2178+125C>T
ENST00000707133.1:n.608+125C>T
ENST00000707134.1:n.877+125C>T
ENST00000346798.8:c.2211+125C>T MANE Select ENSP00000284981.4:n.2211+125C>T
ENST00000346798.7:c.2211+125C>T ENSP00000284981.4:n.2211+125C>T
ENST00000348990.9:c.1986+125C>T ENSP00000345463.5:n.1986+125C>T
ENST00000354192.7:c.1818+125C>T ENSP00000346129.3:n.1818+125C>T
ENST00000357903.7:c.2154+125C>T ENSP00000350578.3:n.2154+125C>T
ENST00000358918.7:c.2157+125C>T ENSP00000351796.3:n.2157+125C>T
ENST00000359726.7:c.1881+125C>T ENSP00000352760.4:n.1881+125C>T
ENST00000439274.6:c.2043+125C>T ENSP00000398879.2:n.2043+125C>T
ENST00000440126.7:c.2139+125C>T ENSP00000387483.2:n.2139+125C>T
ENST00000464867.1:n.558+125C>T
NM_000484.3:c.2211+125C>T NP_000475.1:n.2211+125C>T
NM_001136016.3:c.2139+125C>T NP_001129488.1:n.2139+125C>T
NM_001136129.2:c.1818+125C>T NP_001129601.1:n.1818+125C>T
NM_001136130.2:c.2043+125C>T NP_001129602.1:n.2043+125C>T
NM_001136131.2:c.1881+125C>T NP_001129603.1:n.1881+125C>T
NM_001204301.1:c.2157+125C>T NP_001191230.1:n.2157+125C>T
NM_001204302.1:c.2100+125C>T NP_001191231.1:n.2100+125C>T
NM_001204303.1:c.1932+125C>T NP_001191232.1:n.1932+125C>T
NM_201413.2:c.2154+125C>T NP_958816.1:n.2154+125C>T
NM_201414.2:c.1986+125C>T NP_958817.1:n.1986+125C>T
NM_000484.4:c.2211+125C>T MANE Select NP_000475.1:n.2211+125C>T
NM_001136129.3:c.1818+125C>T NP_001129601.1:n.1818+125C>T
NM_001136130.3:c.2043+125C>T NP_001129602.1:n.2043+125C>T
NM_001204301.2:c.2157+125C>T NP_001191230.1:n.2157+125C>T
NM_001204302.2:c.2100+125C>T NP_001191231.1:n.2100+125C>T
NM_001204303.2:c.1932+125C>T NP_001191232.1:n.1932+125C>T
NM_201413.3:c.2154+125C>T NP_958816.1:n.2154+125C>T
NM_201414.3:c.1986+125C>T NP_958817.1:n.1986+125C>T
NM_001136131.3:c.1881+125C>T NP_001129603.1:n.1881+125C>T
NM_001385253.1:c.2043+125C>T NP_001372182.1:n.2043+125C>T