Canonical Allele Identifier: CA511685980
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264078G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891766G>A , CM000683.2:g.25891766G>A GRCh38
NC_000021.8:g.27264078G>A , CM000683.1:g.27264078G>A GRCh37
NC_000021.7:g.26185949G>A NCBI36
NG_007376.1:g.284055C>T
NG_007376.2:g.284363C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2167C>T MANE Select ENSP00000284981.4:p.Leu723=
ENST00000346798.7:c.2167C>T ENSP00000284981.4:p.Leu723=
ENST00000348990.9:c.1942C>T ENSP00000345463.5:p.Leu648=
ENST00000354192.7:c.1774C>T ENSP00000346129.3:p.Leu592=
ENST00000357903.7:c.2110C>T ENSP00000350578.3:p.Leu704=
ENST00000358918.7:c.2113C>T ENSP00000351796.3:p.Leu705=
ENST00000359726.7:c.1837C>T ENSP00000352760.4:p.Leu613=
ENST00000439274.6:c.1999C>T ENSP00000398879.2:p.Leu667=
ENST00000440126.7:c.2095C>T ENSP00000387483.2:p.Leu699=
ENST00000464867.1:n.514C>T
NM_000484.3:c.2167C>T NP_000475.1:p.Leu723=
NM_001136016.3:c.2095C>T NP_001129488.1:p.Leu699=
NM_001136129.2:c.1774C>T NP_001129601.1:p.Leu592=
NM_001136130.2:c.1999C>T NP_001129602.1:p.Leu667=
NM_001136131.2:c.1837C>T NP_001129603.1:p.Leu613=
NM_001204301.1:c.2113C>T NP_001191230.1:p.Leu705=
NM_001204302.1:c.2056C>T NP_001191231.1:p.Leu686=
NM_001204303.1:c.1888C>T NP_001191232.1:p.Leu630=
NM_201413.2:c.2110C>T NP_958816.1:p.Leu704=
NM_201414.2:c.1942C>T NP_958817.1:p.Leu648=
NM_000484.4:c.2167C>T MANE Select NP_000475.1:p.Leu723=
NM_001136129.3:c.1774C>T NP_001129601.1:p.Leu592=
NM_001136130.3:c.1999C>T NP_001129602.1:p.Leu667=
NM_001204301.2:c.2113C>T NP_001191230.1:p.Leu705=
NM_001204302.2:c.2056C>T NP_001191231.1:p.Leu686=
NM_001204303.2:c.1888C>T NP_001191232.1:p.Leu630=
NM_201413.3:c.2110C>T NP_958816.1:p.Leu704=
NM_201414.3:c.1942C>T NP_958817.1:p.Leu648=
NM_001136131.3:c.1837C>T NP_001129603.1:p.Leu613=
NM_001385253.1:c.1999C>T NP_001372182.1:p.Leu667=