Canonical Allele Identifier: CA3243796636
Community Standard Title: NM_000484.4(APP):c.2206G= (p.Val736=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891727C= , CM000683.2:g.25891727C= GRCh38
NC_000021.8:g.27264039C= , CM000683.1:g.27264039C= GRCh37
NC_000021.7:g.26185910C= NCBI36
NG_007376.1:g.284094G=
NG_007376.2:g.284402G=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2206G= MANE Select NP_000475.1:p.Val736=
ENST00000346798.8:c.2206G= MANE Select ENSP00000284981.4:p.Val736=
NM_000484.3:c.2206G= NP_000475.1:p.Val736=
NM_001136016.3:c.2134G= NP_001129488.1:p.Val712=
NM_001136129.2:c.1813G= NP_001129601.1:p.Val605=
NM_001136129.3:c.1813G= NP_001129601.1:p.Val605=
NM_001136130.2:c.2038G= NP_001129602.1:p.Val680=
NM_001136130.3:c.2038G= NP_001129602.1:p.Val680=
NM_001136131.2:c.1876G= NP_001129603.1:p.Val626=
NM_001136131.3:c.1876G= NP_001129603.1:p.Val626=
NM_001204301.1:c.2152G= NP_001191230.1:p.Val718=
NM_001204301.2:c.2152G= NP_001191230.1:p.Val718=
NM_001204302.1:c.2095G= NP_001191231.1:p.Val699=
NM_001204302.2:c.2095G= NP_001191231.1:p.Val699=
NM_001204303.1:c.1927G= NP_001191232.1:p.Val643=
NM_001204303.2:c.1927G= NP_001191232.1:p.Val643=
NM_001385253.1:c.2038G= NP_001372182.1:p.Val680=
NM_201413.2:c.2149G= NP_958816.1:p.Val717=
NM_201413.3:c.2149G= NP_958816.1:p.Val717=
NM_201414.2:c.1981G= NP_958817.1:p.Val661=
NM_201414.3:c.1981G= NP_958817.1:p.Val661=
ENST00000346798.7:c.2206G= ENSP00000284981.4:p.Val736=
ENST00000348990.9:c.1981G= ENSP00000345463.5:p.Val661=
ENST00000354192.7:c.1813G= ENSP00000346129.3:p.Val605=
ENST00000357903.7:c.2149G= ENSP00000350578.3:p.Val717=
ENST00000358918.7:c.2152G= ENSP00000351796.3:p.Val718=
ENST00000359726.7:c.1876G= ENSP00000352760.4:p.Val626=
ENST00000439274.6:c.2038G= ENSP00000398879.2:p.Val680=
ENST00000440126.7:c.2134G= ENSP00000387483.2:p.Val712=
ENST00000464867.1:n.553G=
ENST00000707132.1:n.2173G=
ENST00000707133.1:n.603G=
ENST00000707134.1:n.872G=