Canonical Allele Identifier: CA511686050
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264172A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891860A>G , CM000683.2:g.25891860A>G GRCh38
NC_000021.8:g.27264172A>G , CM000683.1:g.27264172A>G GRCh37
NC_000021.7:g.26186043A>G NCBI36
NG_007376.1:g.283961T>C
NG_007376.2:g.284269T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2073T>C MANE Select ENSP00000284981.4:p.Phe691=
ENST00000346798.7:c.2073T>C ENSP00000284981.4:p.Phe691=
ENST00000348990.9:c.1848T>C ENSP00000345463.5:p.Phe616=
ENST00000354192.7:c.1680T>C ENSP00000346129.3:p.Phe560=
ENST00000357903.7:c.2016T>C ENSP00000350578.3:p.Phe672=
ENST00000358918.7:c.2019T>C ENSP00000351796.3:p.Phe673=
ENST00000359726.7:c.1743T>C ENSP00000352760.4:p.Phe581=
ENST00000439274.6:c.1905T>C ENSP00000398879.2:p.Phe635=
ENST00000440126.7:c.2001T>C ENSP00000387483.2:p.Phe667=
NM_000484.3:c.2073T>C NP_000475.1:p.Phe691=
NM_001136016.3:c.2001T>C NP_001129488.1:p.Phe667=
NM_001136129.2:c.1680T>C NP_001129601.1:p.Phe560=
NM_001136130.2:c.1905T>C NP_001129602.1:p.Phe635=
NM_001136131.2:c.1743T>C NP_001129603.1:p.Phe581=
NM_001204301.1:c.2019T>C NP_001191230.1:p.Phe673=
NM_001204302.1:c.1962T>C NP_001191231.1:p.Phe654=
NM_001204303.1:c.1794T>C NP_001191232.1:p.Phe598=
NM_201413.2:c.2016T>C NP_958816.1:p.Phe672=
NM_201414.2:c.1848T>C NP_958817.1:p.Phe616=
NM_000484.4:c.2073T>C MANE Select NP_000475.1:p.Phe691=
NM_001136129.3:c.1680T>C NP_001129601.1:p.Phe560=
NM_001136130.3:c.1905T>C NP_001129602.1:p.Phe635=
NM_001204301.2:c.2019T>C NP_001191230.1:p.Phe673=
NM_001204302.2:c.1962T>C NP_001191231.1:p.Phe654=
NM_001204303.2:c.1794T>C NP_001191232.1:p.Phe598=
NM_201413.3:c.2016T>C NP_958816.1:p.Phe672=
NM_201414.3:c.1848T>C NP_958817.1:p.Phe616=
NM_001136131.3:c.1743T>C NP_001129603.1:p.Phe581=
NM_001385253.1:c.1905T>C NP_001372182.1:p.Phe635=