Canonical Allele Identifier: CA511685993
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264094G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891782G>C , CM000683.2:g.25891782G>C GRCh38
NC_000021.8:g.27264094G>C , CM000683.1:g.27264094G>C GRCh37
NC_000021.7:g.26185965G>C NCBI36
NG_007376.1:g.284039C>G
NG_007376.2:g.284347C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2151C>G MANE Select ENSP00000284981.4:p.Val717=
ENST00000346798.7:c.2151C>G ENSP00000284981.4:p.Val717=
ENST00000348990.9:c.1926C>G ENSP00000345463.5:p.Val642=
ENST00000354192.7:c.1758C>G ENSP00000346129.3:p.Val586=
ENST00000357903.7:c.2094C>G ENSP00000350578.3:p.Val698=
ENST00000358918.7:c.2097C>G ENSP00000351796.3:p.Val699=
ENST00000359726.7:c.1821C>G ENSP00000352760.4:p.Val607=
ENST00000439274.6:c.1983C>G ENSP00000398879.2:p.Val661=
ENST00000440126.7:c.2079C>G ENSP00000387483.2:p.Val693=
ENST00000464867.1:n.498C>G
NM_000484.3:c.2151C>G NP_000475.1:p.Val717=
NM_001136016.3:c.2079C>G NP_001129488.1:p.Val693=
NM_001136129.2:c.1758C>G NP_001129601.1:p.Val586=
NM_001136130.2:c.1983C>G NP_001129602.1:p.Val661=
NM_001136131.2:c.1821C>G NP_001129603.1:p.Val607=
NM_001204301.1:c.2097C>G NP_001191230.1:p.Val699=
NM_001204302.1:c.2040C>G NP_001191231.1:p.Val680=
NM_001204303.1:c.1872C>G NP_001191232.1:p.Val624=
NM_201413.2:c.2094C>G NP_958816.1:p.Val698=
NM_201414.2:c.1926C>G NP_958817.1:p.Val642=
NM_000484.4:c.2151C>G MANE Select NP_000475.1:p.Val717=
NM_001136129.3:c.1758C>G NP_001129601.1:p.Val586=
NM_001136130.3:c.1983C>G NP_001129602.1:p.Val661=
NM_001204301.2:c.2097C>G NP_001191230.1:p.Val699=
NM_001204302.2:c.2040C>G NP_001191231.1:p.Val680=
NM_001204303.2:c.1872C>G NP_001191232.1:p.Val624=
NM_201413.3:c.2094C>G NP_958816.1:p.Val698=
NM_201414.3:c.1926C>G NP_958817.1:p.Val642=
NM_001136131.3:c.1821C>G NP_001129603.1:p.Val607=
NM_001385253.1:c.1983C>G NP_001372182.1:p.Val661=