Canonical Allele Identifier: CA409805423
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2173G>T
ENST00000707133.1:n.603G>T
ENST00000707134.1:n.872G>T
ENST00000346798.8:c.2206G>T MANE Select ENSP00000284981.4:p.Val736Leu
ENST00000346798.7:c.2206G>T ENSP00000284981.4:p.Val736Leu
ENST00000348990.9:c.1981G>T ENSP00000345463.5:p.Val661Leu
ENST00000354192.7:c.1813G>T ENSP00000346129.3:p.Val605Leu
ENST00000357903.7:c.2149G>T ENSP00000350578.3:p.Val717Leu
ENST00000358918.7:c.2152G>T ENSP00000351796.3:p.Val718Leu
ENST00000359726.7:c.1876G>T ENSP00000352760.4:p.Val626Leu
ENST00000439274.6:c.2038G>T ENSP00000398879.2:p.Val680Leu
ENST00000440126.7:c.2134G>T ENSP00000387483.2:p.Val712Leu
ENST00000464867.1:n.553G>T
NM_000484.3:c.2206G>T NP_000475.1:p.Val736Leu
NM_001136016.3:c.2134G>T NP_001129488.1:p.Val712Leu
NM_001136129.2:c.1813G>T NP_001129601.1:p.Val605Leu
NM_001136130.2:c.2038G>T NP_001129602.1:p.Val680Leu
NM_001136131.2:c.1876G>T NP_001129603.1:p.Val626Leu
NM_001204301.1:c.2152G>T NP_001191230.1:p.Val718Leu
NM_001204302.1:c.2095G>T NP_001191231.1:p.Val699Leu
NM_001204303.1:c.1927G>T NP_001191232.1:p.Val643Leu
NM_201413.2:c.2149G>T NP_958816.1:p.Val717Leu
NM_201414.2:c.1981G>T NP_958817.1:p.Val661Leu
NM_000484.4:c.2206G>T MANE Select NP_000475.1:p.Val736Leu
NM_001136129.3:c.1813G>T NP_001129601.1:p.Val605Leu
NM_001136130.3:c.2038G>T NP_001129602.1:p.Val680Leu
NM_001204301.2:c.2152G>T NP_001191230.1:p.Val718Leu
NM_001204302.2:c.2095G>T NP_001191231.1:p.Val699Leu
NM_001204303.2:c.1927G>T NP_001191232.1:p.Val643Leu
NM_201413.3:c.2149G>T NP_958816.1:p.Val717Leu
NM_201414.3:c.1981G>T NP_958817.1:p.Val661Leu
NM_001136131.3:c.1876G>T NP_001129603.1:p.Val626Leu
NM_001385253.1:c.2038G>T NP_001372182.1:p.Val680Leu