Canonical Allele Identifier: CA511685960
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264043A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891731A>G , CM000683.2:g.25891731A>G GRCh38
NC_000021.8:g.27264043A>G , CM000683.1:g.27264043A>G GRCh37
NC_000021.7:g.26185914A>G NCBI36
NG_007376.1:g.284090T>C
NG_007376.2:g.284398T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2169T>C
ENST00000707133.1:n.599T>C
ENST00000707134.1:n.868T>C
ENST00000346798.8:c.2202T>C MANE Select ENSP00000284981.4:p.Gly734=
ENST00000346798.7:c.2202T>C ENSP00000284981.4:p.Gly734=
ENST00000348990.9:c.1977T>C ENSP00000345463.5:p.Gly659=
ENST00000354192.7:c.1809T>C ENSP00000346129.3:p.Gly603=
ENST00000357903.7:c.2145T>C ENSP00000350578.3:p.Gly715=
ENST00000358918.7:c.2148T>C ENSP00000351796.3:p.Gly716=
ENST00000359726.7:c.1872T>C ENSP00000352760.4:p.Gly624=
ENST00000439274.6:c.2034T>C ENSP00000398879.2:p.Gly678=
ENST00000440126.7:c.2130T>C ENSP00000387483.2:p.Gly710=
ENST00000464867.1:n.549T>C
NM_000484.3:c.2202T>C NP_000475.1:p.Gly734=
NM_001136016.3:c.2130T>C NP_001129488.1:p.Gly710=
NM_001136129.2:c.1809T>C NP_001129601.1:p.Gly603=
NM_001136130.2:c.2034T>C NP_001129602.1:p.Gly678=
NM_001136131.2:c.1872T>C NP_001129603.1:p.Gly624=
NM_001204301.1:c.2148T>C NP_001191230.1:p.Gly716=
NM_001204302.1:c.2091T>C NP_001191231.1:p.Gly697=
NM_001204303.1:c.1923T>C NP_001191232.1:p.Gly641=
NM_201413.2:c.2145T>C NP_958816.1:p.Gly715=
NM_201414.2:c.1977T>C NP_958817.1:p.Gly659=
NM_000484.4:c.2202T>C MANE Select NP_000475.1:p.Gly734=
NM_001136129.3:c.1809T>C NP_001129601.1:p.Gly603=
NM_001136130.3:c.2034T>C NP_001129602.1:p.Gly678=
NM_001204301.2:c.2148T>C NP_001191230.1:p.Gly716=
NM_001204302.2:c.2091T>C NP_001191231.1:p.Gly697=
NM_001204303.2:c.1923T>C NP_001191232.1:p.Gly641=
NM_201413.3:c.2145T>C NP_958816.1:p.Gly715=
NM_201414.3:c.1977T>C NP_958817.1:p.Gly659=
NM_001136131.3:c.1872T>C NP_001129603.1:p.Gly624=
NM_001385253.1:c.2034T>C NP_001372182.1:p.Gly678=