Canonical Allele Identifier: CA511686395
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269981A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897669A>G , CM000683.2:g.25897669A>G GRCh38
NC_000021.8:g.27269981A>G , CM000683.1:g.27269981A>G GRCh37
NC_000021.7:g.26191852A>G NCBI36
NG_007376.1:g.278152T>C
NG_007376.2:g.278460T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1935T>C
ENST00000707133.1:n.365T>C
ENST00000707134.1:n.634T>C
ENST00000346798.8:c.1968T>C MANE Select ENSP00000284981.4:p.Ser656=
ENST00000346798.7:c.1968T>C ENSP00000284981.4:p.Ser656=
ENST00000348990.9:c.1743T>C ENSP00000345463.5:p.Ser581=
ENST00000354192.7:c.1575T>C ENSP00000346129.3:p.Ser525=
ENST00000357903.7:c.1911T>C ENSP00000350578.3:p.Ser637=
ENST00000358918.7:c.1914T>C ENSP00000351796.3:p.Ser638=
ENST00000359726.7:c.1638T>C ENSP00000352760.4:p.Ser546=
ENST00000439274.6:c.1800T>C ENSP00000398879.2:p.Ser600=
ENST00000440126.7:c.1896T>C ENSP00000387483.2:p.Ser632=
ENST00000464867.1:n.315T>C
NM_000484.3:c.1968T>C NP_000475.1:p.Ser656=
NM_001136016.3:c.1896T>C NP_001129488.1:p.Ser632=
NM_001136129.2:c.1575T>C NP_001129601.1:p.Ser525=
NM_001136130.2:c.1800T>C NP_001129602.1:p.Ser600=
NM_001136131.2:c.1638T>C NP_001129603.1:p.Ser546=
NM_001204301.1:c.1914T>C NP_001191230.1:p.Ser638=
NM_001204302.1:c.1857T>C NP_001191231.1:p.Ser619=
NM_001204303.1:c.1689T>C NP_001191232.1:p.Ser563=
NM_201413.2:c.1911T>C NP_958816.1:p.Ser637=
NM_201414.2:c.1743T>C NP_958817.1:p.Ser581=
NM_000484.4:c.1968T>C MANE Select NP_000475.1:p.Ser656=
NM_001136129.3:c.1575T>C NP_001129601.1:p.Ser525=
NM_001136130.3:c.1800T>C NP_001129602.1:p.Ser600=
NM_001204301.2:c.1914T>C NP_001191230.1:p.Ser638=
NM_001204302.2:c.1857T>C NP_001191231.1:p.Ser619=
NM_001204303.2:c.1689T>C NP_001191232.1:p.Ser563=
NM_201413.3:c.1911T>C NP_958816.1:p.Ser637=
NM_201414.3:c.1743T>C NP_958817.1:p.Ser581=
NM_001136131.3:c.1638T>C NP_001129603.1:p.Ser546=
NM_001385253.1:c.1800T>C NP_001372182.1:p.Ser600=