Canonical Allele Identifier: CA3243796640
Community Standard Title: NM_000484.4(APP):c.2189C= (p.Ser730=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891744G= , CM000683.2:g.25891744G= GRCh38
NC_000021.8:g.27264056G= , CM000683.1:g.27264056G= GRCh37
NC_000021.7:g.26185927G= NCBI36
NG_007376.1:g.284077C=
NG_007376.2:g.284385C=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2189C= MANE Select NP_000475.1:p.Ser730=
ENST00000346798.8:c.2189C= MANE Select ENSP00000284981.4:p.Ser730=
NM_000484.3:c.2189C= NP_000475.1:p.Ser730=
NM_001136016.3:c.2117C= NP_001129488.1:p.Ser706=
NM_001136129.2:c.1796C= NP_001129601.1:p.Ser599=
NM_001136129.3:c.1796C= NP_001129601.1:p.Ser599=
NM_001136130.2:c.2021C= NP_001129602.1:p.Ser674=
NM_001136130.3:c.2021C= NP_001129602.1:p.Ser674=
NM_001136131.2:c.1859C= NP_001129603.1:p.Ser620=
NM_001136131.3:c.1859C= NP_001129603.1:p.Ser620=
NM_001204301.1:c.2135C= NP_001191230.1:p.Ser712=
NM_001204301.2:c.2135C= NP_001191230.1:p.Ser712=
NM_001204302.1:c.2078C= NP_001191231.1:p.Ser693=
NM_001204302.2:c.2078C= NP_001191231.1:p.Ser693=
NM_001204303.1:c.1910C= NP_001191232.1:p.Ser637=
NM_001204303.2:c.1910C= NP_001191232.1:p.Ser637=
NM_001385253.1:c.2021C= NP_001372182.1:p.Ser674=
NM_201413.2:c.2132C= NP_958816.1:p.Ser711=
NM_201413.3:c.2132C= NP_958816.1:p.Ser711=
NM_201414.2:c.1964C= NP_958817.1:p.Ser655=
NM_201414.3:c.1964C= NP_958817.1:p.Ser655=
ENST00000346798.7:c.2189C= ENSP00000284981.4:p.Ser730=
ENST00000348990.9:c.1964C= ENSP00000345463.5:p.Ser655=
ENST00000354192.7:c.1796C= ENSP00000346129.3:p.Ser599=
ENST00000357903.7:c.2132C= ENSP00000350578.3:p.Ser711=
ENST00000358918.7:c.2135C= ENSP00000351796.3:p.Ser712=
ENST00000359726.7:c.1859C= ENSP00000352760.4:p.Ser620=
ENST00000439274.6:c.2021C= ENSP00000398879.2:p.Ser674=
ENST00000440126.7:c.2117C= ENSP00000387483.2:p.Ser706=
ENST00000464867.1:n.536C=
ENST00000707132.1:n.2156C=
ENST00000707133.1:n.586C=
ENST00000707134.1:n.855C=