Canonical Allele Identifier: CA511685955
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264037C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891725C>G , CM000683.2:g.25891725C>G GRCh38
NC_000021.8:g.27264037C>G , CM000683.1:g.27264037C>G GRCh37
NC_000021.7:g.26185908C>G NCBI36
NG_007376.1:g.284096G>C
NG_007376.2:g.284404G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2208G>C MANE Select ENSP00000284981.4:p.Val736=
ENST00000346798.7:c.2208G>C ENSP00000284981.4:p.Val736=
ENST00000348990.9:c.1983G>C ENSP00000345463.5:p.Val661=
ENST00000354192.7:c.1815G>C ENSP00000346129.3:p.Val605=
ENST00000357903.7:c.2151G>C ENSP00000350578.3:p.Val717=
ENST00000358918.7:c.2154G>C ENSP00000351796.3:p.Val718=
ENST00000359726.7:c.1878G>C ENSP00000352760.4:p.Val626=
ENST00000439274.6:c.2040G>C ENSP00000398879.2:p.Val680=
ENST00000440126.7:c.2136G>C ENSP00000387483.2:p.Val712=
ENST00000464867.1:n.555G>C
NM_000484.3:c.2208G>C NP_000475.1:p.Val736=
NM_001136016.3:c.2136G>C NP_001129488.1:p.Val712=
NM_001136129.2:c.1815G>C NP_001129601.1:p.Val605=
NM_001136130.2:c.2040G>C NP_001129602.1:p.Val680=
NM_001136131.2:c.1878G>C NP_001129603.1:p.Val626=
NM_001204301.1:c.2154G>C NP_001191230.1:p.Val718=
NM_001204302.1:c.2097G>C NP_001191231.1:p.Val699=
NM_001204303.1:c.1929G>C NP_001191232.1:p.Val643=
NM_201413.2:c.2151G>C NP_958816.1:p.Val717=
NM_201414.2:c.1983G>C NP_958817.1:p.Val661=
NM_000484.4:c.2208G>C MANE Select NP_000475.1:p.Val736=
NM_001136129.3:c.1815G>C NP_001129601.1:p.Val605=
NM_001136130.3:c.2040G>C NP_001129602.1:p.Val680=
NM_001204301.2:c.2154G>C NP_001191230.1:p.Val718=
NM_001204302.2:c.2097G>C NP_001191231.1:p.Val699=
NM_001204303.2:c.1929G>C NP_001191232.1:p.Val643=
NM_201413.3:c.2151G>C NP_958816.1:p.Val717=
NM_201414.3:c.1983G>C NP_958817.1:p.Val661=
NM_001136131.3:c.1878G>C NP_001129603.1:p.Val626=
NM_001385253.1:c.2040G>C NP_001372182.1:p.Val680=