Canonical Allele Identifier: CA409805528
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891772C>G , CM000683.2:g.25891772C>G GRCh38
NC_000021.8:g.27264084C>G , CM000683.1:g.27264084C>G GRCh37
NC_000021.7:g.26185955C>G NCBI36
NG_007376.1:g.284049G>C
NG_007376.2:g.284357G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2161G>C MANE Select ENSP00000284981.4:p.Val721Leu
ENST00000346798.7:c.2161G>C ENSP00000284981.4:p.Val721Leu
ENST00000348990.9:c.1936G>C ENSP00000345463.5:p.Val646Leu
ENST00000354192.7:c.1768G>C ENSP00000346129.3:p.Val590Leu
ENST00000357903.7:c.2104G>C ENSP00000350578.3:p.Val702Leu
ENST00000358918.7:c.2107G>C ENSP00000351796.3:p.Val703Leu
ENST00000359726.7:c.1831G>C ENSP00000352760.4:p.Val611Leu
ENST00000439274.6:c.1993G>C ENSP00000398879.2:p.Val665Leu
ENST00000440126.7:c.2089G>C ENSP00000387483.2:p.Val697Leu
ENST00000464867.1:n.508G>C
NM_000484.3:c.2161G>C NP_000475.1:p.Val721Leu
NM_001136016.3:c.2089G>C NP_001129488.1:p.Val697Leu
NM_001136129.2:c.1768G>C NP_001129601.1:p.Val590Leu
NM_001136130.2:c.1993G>C NP_001129602.1:p.Val665Leu
NM_001136131.2:c.1831G>C NP_001129603.1:p.Val611Leu
NM_001204301.1:c.2107G>C NP_001191230.1:p.Val703Leu
NM_001204302.1:c.2050G>C NP_001191231.1:p.Val684Leu
NM_001204303.1:c.1882G>C NP_001191232.1:p.Val628Leu
NM_201413.2:c.2104G>C NP_958816.1:p.Val702Leu
NM_201414.2:c.1936G>C NP_958817.1:p.Val646Leu
NM_000484.4:c.2161G>C MANE Select NP_000475.1:p.Val721Leu
NM_001136129.3:c.1768G>C NP_001129601.1:p.Val590Leu
NM_001136130.3:c.1993G>C NP_001129602.1:p.Val665Leu
NM_001204301.2:c.2107G>C NP_001191230.1:p.Val703Leu
NM_001204302.2:c.2050G>C NP_001191231.1:p.Val684Leu
NM_001204303.2:c.1882G>C NP_001191232.1:p.Val628Leu
NM_201413.3:c.2104G>C NP_958816.1:p.Val702Leu
NM_201414.3:c.1936G>C NP_958817.1:p.Val646Leu
NM_001136131.3:c.1831G>C NP_001129603.1:p.Val611Leu
NM_001385253.1:c.1993G>C NP_001372182.1:p.Val665Leu