Canonical Allele Identifier: CA511685958

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264040C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891728C>T , CM000683.2:g.25891728C>T	GRCh38
NC_000021.8:g.27264040C>T , CM000683.1:g.27264040C>T	GRCh37
NC_000021.7:g.26185911C>T	NCBI36
NG_007376.1:g.284093G>A
NG_007376.2:g.284401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2172G>A
ENST00000707133.1:n.602G>A
ENST00000707134.1:n.871G>A
ENST00000346798.8:c.2205G>A MANE Select	ENSP00000284981.4:p.Val735=
ENST00000346798.7:c.2205G>A	ENSP00000284981.4:p.Val735=
ENST00000348990.9:c.1980G>A	ENSP00000345463.5:p.Val660=
ENST00000354192.7:c.1812G>A	ENSP00000346129.3:p.Val604=
ENST00000357903.7:c.2148G>A	ENSP00000350578.3:p.Val716=
ENST00000358918.7:c.2151G>A	ENSP00000351796.3:p.Val717=
ENST00000359726.7:c.1875G>A	ENSP00000352760.4:p.Val625=
ENST00000439274.6:c.2037G>A	ENSP00000398879.2:p.Val679=
ENST00000440126.7:c.2133G>A	ENSP00000387483.2:p.Val711=
ENST00000464867.1:n.552G>A
NM_000484.3:c.2205G>A	NP_000475.1:p.Val735=
NM_001136016.3:c.2133G>A	NP_001129488.1:p.Val711=
NM_001136129.2:c.1812G>A	NP_001129601.1:p.Val604=
NM_001136130.2:c.2037G>A	NP_001129602.1:p.Val679=
NM_001136131.2:c.1875G>A	NP_001129603.1:p.Val625=
NM_001204301.1:c.2151G>A	NP_001191230.1:p.Val717=
NM_001204302.1:c.2094G>A	NP_001191231.1:p.Val698=
NM_001204303.1:c.1926G>A	NP_001191232.1:p.Val642=
NM_201413.2:c.2148G>A	NP_958816.1:p.Val716=
NM_201414.2:c.1980G>A	NP_958817.1:p.Val660=
NM_000484.4:c.2205G>A MANE Select	NP_000475.1:p.Val735=
NM_001136129.3:c.1812G>A	NP_001129601.1:p.Val604=
NM_001136130.3:c.2037G>A	NP_001129602.1:p.Val679=
NM_001204301.2:c.2151G>A	NP_001191230.1:p.Val717=
NM_001204302.2:c.2094G>A	NP_001191231.1:p.Val698=
NM_001204303.2:c.1926G>A	NP_001191232.1:p.Val642=
NM_201413.3:c.2148G>A	NP_958816.1:p.Val716=
NM_201414.3:c.1980G>A	NP_958817.1:p.Val660=
NM_001136131.3:c.1875G>A	NP_001129603.1:p.Val625=
NM_001385253.1:c.2037G>A	NP_001372182.1:p.Val679=