Canonical Allele Identifier: CA511686001
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264103T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891791T>C , CM000683.2:g.25891791T>C GRCh38
NC_000021.8:g.27264103T>C , CM000683.1:g.27264103T>C GRCh37
NC_000021.7:g.26185974T>C NCBI36
NG_007376.1:g.284030A>G
NG_007376.2:g.284338A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2109A>G
ENST00000707133.1:n.539A>G
ENST00000707134.1:n.808A>G
ENST00000346798.8:c.2142A>G MANE Select ENSP00000284981.4:p.Thr714=
ENST00000346798.7:c.2142A>G ENSP00000284981.4:p.Thr714=
ENST00000348990.9:c.1917A>G ENSP00000345463.5:p.Thr639=
ENST00000354192.7:c.1749A>G ENSP00000346129.3:p.Thr583=
ENST00000357903.7:c.2085A>G ENSP00000350578.3:p.Thr695=
ENST00000358918.7:c.2088A>G ENSP00000351796.3:p.Thr696=
ENST00000359726.7:c.1812A>G ENSP00000352760.4:p.Thr604=
ENST00000439274.6:c.1974A>G ENSP00000398879.2:p.Thr658=
ENST00000440126.7:c.2070A>G ENSP00000387483.2:p.Thr690=
ENST00000464867.1:n.489A>G
NM_000484.3:c.2142A>G NP_000475.1:p.Thr714=
NM_001136016.3:c.2070A>G NP_001129488.1:p.Thr690=
NM_001136129.2:c.1749A>G NP_001129601.1:p.Thr583=
NM_001136130.2:c.1974A>G NP_001129602.1:p.Thr658=
NM_001136131.2:c.1812A>G NP_001129603.1:p.Thr604=
NM_001204301.1:c.2088A>G NP_001191230.1:p.Thr696=
NM_001204302.1:c.2031A>G NP_001191231.1:p.Thr677=
NM_001204303.1:c.1863A>G NP_001191232.1:p.Thr621=
NM_201413.2:c.2085A>G NP_958816.1:p.Thr695=
NM_201414.2:c.1917A>G NP_958817.1:p.Thr639=
NM_000484.4:c.2142A>G MANE Select NP_000475.1:p.Thr714=
NM_001136129.3:c.1749A>G NP_001129601.1:p.Thr583=
NM_001136130.3:c.1974A>G NP_001129602.1:p.Thr658=
NM_001204301.2:c.2088A>G NP_001191230.1:p.Thr696=
NM_001204302.2:c.2031A>G NP_001191231.1:p.Thr677=
NM_001204303.2:c.1863A>G NP_001191232.1:p.Thr621=
NM_201413.3:c.2085A>G NP_958816.1:p.Thr695=
NM_201414.3:c.1917A>G NP_958817.1:p.Thr639=
NM_001136131.3:c.1812A>G NP_001129603.1:p.Thr604=
NM_001385253.1:c.1974A>G NP_001372182.1:p.Thr658=