Canonical Allele Identifier: CA511685988

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264088G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891776G>C , CM000683.2:g.25891776G>C	GRCh38
NC_000021.8:g.27264088G>C , CM000683.1:g.27264088G>C	GRCh37
NC_000021.7:g.26185959G>C	NCBI36
NG_007376.1:g.284045C>G
NG_007376.2:g.284353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2124C>G
ENST00000707133.1:n.554C>G
ENST00000707134.1:n.823C>G
ENST00000346798.8:c.2157C>G MANE Select	ENSP00000284981.4:p.Thr719=
ENST00000346798.7:c.2157C>G	ENSP00000284981.4:p.Thr719=
ENST00000348990.9:c.1932C>G	ENSP00000345463.5:p.Thr644=
ENST00000354192.7:c.1764C>G	ENSP00000346129.3:p.Thr588=
ENST00000357903.7:c.2100C>G	ENSP00000350578.3:p.Thr700=
ENST00000358918.7:c.2103C>G	ENSP00000351796.3:p.Thr701=
ENST00000359726.7:c.1827C>G	ENSP00000352760.4:p.Thr609=
ENST00000439274.6:c.1989C>G	ENSP00000398879.2:p.Thr663=
ENST00000440126.7:c.2085C>G	ENSP00000387483.2:p.Thr695=
ENST00000464867.1:n.504C>G
NM_000484.3:c.2157C>G	NP_000475.1:p.Thr719=
NM_001136016.3:c.2085C>G	NP_001129488.1:p.Thr695=
NM_001136129.2:c.1764C>G	NP_001129601.1:p.Thr588=
NM_001136130.2:c.1989C>G	NP_001129602.1:p.Thr663=
NM_001136131.2:c.1827C>G	NP_001129603.1:p.Thr609=
NM_001204301.1:c.2103C>G	NP_001191230.1:p.Thr701=
NM_001204302.1:c.2046C>G	NP_001191231.1:p.Thr682=
NM_001204303.1:c.1878C>G	NP_001191232.1:p.Thr626=
NM_201413.2:c.2100C>G	NP_958816.1:p.Thr700=
NM_201414.2:c.1932C>G	NP_958817.1:p.Thr644=
NM_000484.4:c.2157C>G MANE Select	NP_000475.1:p.Thr719=
NM_001136129.3:c.1764C>G	NP_001129601.1:p.Thr588=
NM_001136130.3:c.1989C>G	NP_001129602.1:p.Thr663=
NM_001204301.2:c.2103C>G	NP_001191230.1:p.Thr701=
NM_001204302.2:c.2046C>G	NP_001191231.1:p.Thr682=
NM_001204303.2:c.1878C>G	NP_001191232.1:p.Thr626=
NM_201413.3:c.2100C>G	NP_958816.1:p.Thr700=
NM_201414.3:c.1932C>G	NP_958817.1:p.Thr644=
NM_001136131.3:c.1827C>G	NP_001129603.1:p.Thr609=
NM_001385253.1:c.1989C>G	NP_001372182.1:p.Thr663=