Canonical Allele Identifier: CA511685974
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264067T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891755T>C , CM000683.2:g.25891755T>C GRCh38
NC_000021.8:g.27264067T>C , CM000683.1:g.27264067T>C GRCh37
NC_000021.7:g.26185938T>C NCBI36
NG_007376.1:g.284066A>G
NG_007376.2:g.284374A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2145A>G
ENST00000707133.1:n.575A>G
ENST00000707134.1:n.844A>G
ENST00000346798.8:c.2178A>G MANE Select ENSP00000284981.4:p.Lys726=
ENST00000346798.7:c.2178A>G ENSP00000284981.4:p.Lys726=
ENST00000348990.9:c.1953A>G ENSP00000345463.5:p.Lys651=
ENST00000354192.7:c.1785A>G ENSP00000346129.3:p.Lys595=
ENST00000357903.7:c.2121A>G ENSP00000350578.3:p.Lys707=
ENST00000358918.7:c.2124A>G ENSP00000351796.3:p.Lys708=
ENST00000359726.7:c.1848A>G ENSP00000352760.4:p.Lys616=
ENST00000439274.6:c.2010A>G ENSP00000398879.2:p.Lys670=
ENST00000440126.7:c.2106A>G ENSP00000387483.2:p.Lys702=
ENST00000464867.1:n.525A>G
NM_000484.3:c.2178A>G NP_000475.1:p.Lys726=
NM_001136016.3:c.2106A>G NP_001129488.1:p.Lys702=
NM_001136129.2:c.1785A>G NP_001129601.1:p.Lys595=
NM_001136130.2:c.2010A>G NP_001129602.1:p.Lys670=
NM_001136131.2:c.1848A>G NP_001129603.1:p.Lys616=
NM_001204301.1:c.2124A>G NP_001191230.1:p.Lys708=
NM_001204302.1:c.2067A>G NP_001191231.1:p.Lys689=
NM_001204303.1:c.1899A>G NP_001191232.1:p.Lys633=
NM_201413.2:c.2121A>G NP_958816.1:p.Lys707=
NM_201414.2:c.1953A>G NP_958817.1:p.Lys651=
NM_000484.4:c.2178A>G MANE Select NP_000475.1:p.Lys726=
NM_001136129.3:c.1785A>G NP_001129601.1:p.Lys595=
NM_001136130.3:c.2010A>G NP_001129602.1:p.Lys670=
NM_001204301.2:c.2124A>G NP_001191230.1:p.Lys708=
NM_001204302.2:c.2067A>G NP_001191231.1:p.Lys689=
NM_001204303.2:c.1899A>G NP_001191232.1:p.Lys633=
NM_201413.3:c.2121A>G NP_958816.1:p.Lys707=
NM_201414.3:c.1953A>G NP_958817.1:p.Lys651=
NM_001136131.3:c.1848A>G NP_001129603.1:p.Lys616=
NM_001385253.1:c.2010A>G NP_001372182.1:p.Lys670=