Canonical Allele Identifier: CA511686167
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269912T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897600T>G , CM000683.2:g.25897600T>G GRCh38
NC_000021.8:g.27269912T>G , CM000683.1:g.27269912T>G GRCh37
NC_000021.7:g.26191783T>G NCBI36
NG_007376.1:g.278221A>C
NG_007376.2:g.278529A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2004A>C
ENST00000707133.1:n.434A>C
ENST00000707134.1:n.703A>C
ENST00000346798.8:c.2037A>C MANE Select ENSP00000284981.4:p.Ser679=
ENST00000346798.7:c.2037A>C ENSP00000284981.4:p.Ser679=
ENST00000348990.9:c.1812A>C ENSP00000345463.5:p.Ser604=
ENST00000354192.7:c.1644A>C ENSP00000346129.3:p.Ser548=
ENST00000357903.7:c.1980A>C ENSP00000350578.3:p.Ser660=
ENST00000358918.7:c.1983A>C ENSP00000351796.3:p.Ser661=
ENST00000359726.7:c.1707A>C ENSP00000352760.4:p.Ser569=
ENST00000439274.6:c.1869A>C ENSP00000398879.2:p.Ser623=
ENST00000440126.7:c.1965A>C ENSP00000387483.2:p.Ser655=
ENST00000464867.1:n.384A>C
NM_000484.3:c.2037A>C NP_000475.1:p.Ser679=
NM_001136016.3:c.1965A>C NP_001129488.1:p.Ser655=
NM_001136129.2:c.1644A>C NP_001129601.1:p.Ser548=
NM_001136130.2:c.1869A>C NP_001129602.1:p.Ser623=
NM_001136131.2:c.1707A>C NP_001129603.1:p.Ser569=
NM_001204301.1:c.1983A>C NP_001191230.1:p.Ser661=
NM_001204302.1:c.1926A>C NP_001191231.1:p.Ser642=
NM_001204303.1:c.1758A>C NP_001191232.1:p.Ser586=
NM_201413.2:c.1980A>C NP_958816.1:p.Ser660=
NM_201414.2:c.1812A>C NP_958817.1:p.Ser604=
NM_000484.4:c.2037A>C MANE Select NP_000475.1:p.Ser679=
NM_001136129.3:c.1644A>C NP_001129601.1:p.Ser548=
NM_001136130.3:c.1869A>C NP_001129602.1:p.Ser623=
NM_001204301.2:c.1983A>C NP_001191230.1:p.Ser661=
NM_001204302.2:c.1926A>C NP_001191231.1:p.Ser642=
NM_001204303.2:c.1758A>C NP_001191232.1:p.Ser586=
NM_201413.3:c.1980A>C NP_958816.1:p.Ser660=
NM_201414.3:c.1812A>C NP_958817.1:p.Ser604=
NM_001136131.3:c.1707A>C NP_001129603.1:p.Ser569=
NM_001385253.1:c.1869A>C NP_001372182.1:p.Ser623=