Canonical Allele Identifier: CA511686135
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs2038156127
MyVariant Identifiers: chr21:g.27269887A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897575A>G , CM000683.2:g.25897575A>G GRCh38
NC_000021.8:g.27269887A>G , CM000683.1:g.27269887A>G GRCh37
NC_000021.7:g.26191758A>G NCBI36
NG_007376.1:g.278246T>C
NG_007376.2:g.278554T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2029T>C
ENST00000707133.1:n.459T>C
ENST00000707134.1:n.728T>C
ENST00000346798.8:c.2062T>C MANE Select ENSP00000284981.4:p.Leu688=
ENST00000346798.7:c.2062T>C ENSP00000284981.4:p.Leu688=
ENST00000348990.9:c.1837T>C ENSP00000345463.5:p.Leu613=
ENST00000354192.7:c.1669T>C ENSP00000346129.3:p.Leu557=
ENST00000357903.7:c.2005T>C ENSP00000350578.3:p.Leu669=
ENST00000358918.7:c.2008T>C ENSP00000351796.3:p.Leu670=
ENST00000359726.7:c.1732T>C ENSP00000352760.4:p.Leu578=
ENST00000439274.6:c.1894T>C ENSP00000398879.2:p.Leu632=
ENST00000440126.7:c.1990T>C ENSP00000387483.2:p.Leu664=
ENST00000464867.1:n.409T>C
NM_000484.3:c.2062T>C NP_000475.1:p.Leu688=
NM_001136016.3:c.1990T>C NP_001129488.1:p.Leu664=
NM_001136129.2:c.1669T>C NP_001129601.1:p.Leu557=
NM_001136130.2:c.1894T>C NP_001129602.1:p.Leu632=
NM_001136131.2:c.1732T>C NP_001129603.1:p.Leu578=
NM_001204301.1:c.2008T>C NP_001191230.1:p.Leu670=
NM_001204302.1:c.1951T>C NP_001191231.1:p.Leu651=
NM_001204303.1:c.1783T>C NP_001191232.1:p.Leu595=
NM_201413.2:c.2005T>C NP_958816.1:p.Leu669=
NM_201414.2:c.1837T>C NP_958817.1:p.Leu613=
NM_000484.4:c.2062T>C MANE Select NP_000475.1:p.Leu688=
NM_001136129.3:c.1669T>C NP_001129601.1:p.Leu557=
NM_001136130.3:c.1894T>C NP_001129602.1:p.Leu632=
NM_001204301.2:c.2008T>C NP_001191230.1:p.Leu670=
NM_001204302.2:c.1951T>C NP_001191231.1:p.Leu651=
NM_001204303.2:c.1783T>C NP_001191232.1:p.Leu595=
NM_201413.3:c.2005T>C NP_958816.1:p.Leu669=
NM_201414.3:c.1837T>C NP_958817.1:p.Leu613=
NM_001136131.3:c.1732T>C NP_001129603.1:p.Leu578=
NM_001385253.1:c.1894T>C NP_001372182.1:p.Leu632=