Canonical Allele Identifier: CA511686027
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264139G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891827G>A , CM000683.2:g.25891827G>A GRCh38
NC_000021.8:g.27264139G>A , CM000683.1:g.27264139G>A GRCh37
NC_000021.7:g.26186010G>A NCBI36
NG_007376.1:g.283994C>T
NG_007376.2:g.284302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2073C>T
ENST00000707133.1:n.503C>T
ENST00000707134.1:n.772C>T
ENST00000346798.8:c.2106C>T MANE Select ENSP00000284981.4:p.Ile702=
ENST00000346798.7:c.2106C>T ENSP00000284981.4:p.Ile702=
ENST00000348990.9:c.1881C>T ENSP00000345463.5:p.Ile627=
ENST00000354192.7:c.1713C>T ENSP00000346129.3:p.Ile571=
ENST00000357903.7:c.2049C>T ENSP00000350578.3:p.Ile683=
ENST00000358918.7:c.2052C>T ENSP00000351796.3:p.Ile684=
ENST00000359726.7:c.1776C>T ENSP00000352760.4:p.Ile592=
ENST00000439274.6:c.1938C>T ENSP00000398879.2:p.Ile646=
ENST00000440126.7:c.2034C>T ENSP00000387483.2:p.Ile678=
ENST00000464867.1:n.453C>T
NM_000484.3:c.2106C>T NP_000475.1:p.Ile702=
NM_001136016.3:c.2034C>T NP_001129488.1:p.Ile678=
NM_001136129.2:c.1713C>T NP_001129601.1:p.Ile571=
NM_001136130.2:c.1938C>T NP_001129602.1:p.Ile646=
NM_001136131.2:c.1776C>T NP_001129603.1:p.Ile592=
NM_001204301.1:c.2052C>T NP_001191230.1:p.Ile684=
NM_001204302.1:c.1995C>T NP_001191231.1:p.Ile665=
NM_001204303.1:c.1827C>T NP_001191232.1:p.Ile609=
NM_201413.2:c.2049C>T NP_958816.1:p.Ile683=
NM_201414.2:c.1881C>T NP_958817.1:p.Ile627=
NM_000484.4:c.2106C>T MANE Select NP_000475.1:p.Ile702=
NM_001136129.3:c.1713C>T NP_001129601.1:p.Ile571=
NM_001136130.3:c.1938C>T NP_001129602.1:p.Ile646=
NM_001204301.2:c.2052C>T NP_001191230.1:p.Ile684=
NM_001204302.2:c.1995C>T NP_001191231.1:p.Ile665=
NM_001204303.2:c.1827C>T NP_001191232.1:p.Ile609=
NM_201413.3:c.2049C>T NP_958816.1:p.Ile683=
NM_201414.3:c.1881C>T NP_958817.1:p.Ile627=
NM_001136131.3:c.1776C>T NP_001129603.1:p.Ile592=
NM_001385253.1:c.1938C>T NP_001372182.1:p.Ile646=