Canonical Allele Identifier: CA409805651

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264150T>G (hg19) ; chr21:g.25891838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891838T>G , CM000683.2:g.25891838T>G	GRCh38
NC_000021.8:g.27264150T>G , CM000683.1:g.27264150T>G	GRCh37
NC_000021.7:g.26186021T>G	NCBI36
NG_007376.1:g.283983A>C
NG_007376.2:g.284291A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2062A>C
ENST00000707133.1:n.492A>C
ENST00000707134.1:n.761A>C
ENST00000346798.8:c.2095A>C MANE Select	ENSP00000284981.4:p.Lys699Gln
ENST00000346798.7:c.2095A>C	ENSP00000284981.4:p.Lys699Gln
ENST00000348990.9:c.1870A>C	ENSP00000345463.5:p.Lys624Gln
ENST00000354192.7:c.1702A>C	ENSP00000346129.3:p.Lys568Gln
ENST00000357903.7:c.2038A>C	ENSP00000350578.3:p.Lys680Gln
ENST00000358918.7:c.2041A>C	ENSP00000351796.3:p.Lys681Gln
ENST00000359726.7:c.1765A>C	ENSP00000352760.4:p.Lys589Gln
ENST00000439274.6:c.1927A>C	ENSP00000398879.2:p.Lys643Gln
ENST00000440126.7:c.2023A>C	ENSP00000387483.2:p.Lys675Gln
ENST00000464867.1:n.442A>C
NM_000484.3:c.2095A>C	NP_000475.1:p.Lys699Gln
NM_001136016.3:c.2023A>C	NP_001129488.1:p.Lys675Gln
NM_001136129.2:c.1702A>C	NP_001129601.1:p.Lys568Gln
NM_001136130.2:c.1927A>C	NP_001129602.1:p.Lys643Gln
NM_001136131.2:c.1765A>C	NP_001129603.1:p.Lys589Gln
NM_001204301.1:c.2041A>C	NP_001191230.1:p.Lys681Gln
NM_001204302.1:c.1984A>C	NP_001191231.1:p.Lys662Gln
NM_001204303.1:c.1816A>C	NP_001191232.1:p.Lys606Gln
NM_201413.2:c.2038A>C	NP_958816.1:p.Lys680Gln
NM_201414.2:c.1870A>C	NP_958817.1:p.Lys624Gln
NM_000484.4:c.2095A>C MANE Select	NP_000475.1:p.Lys699Gln
NM_001136129.3:c.1702A>C	NP_001129601.1:p.Lys568Gln
NM_001136130.3:c.1927A>C	NP_001129602.1:p.Lys643Gln
NM_001204301.2:c.2041A>C	NP_001191230.1:p.Lys681Gln
NM_001204302.2:c.1984A>C	NP_001191231.1:p.Lys662Gln
NM_001204303.2:c.1816A>C	NP_001191232.1:p.Lys606Gln
NM_201413.3:c.2038A>C	NP_958816.1:p.Lys680Gln
NM_201414.3:c.1870A>C	NP_958817.1:p.Lys624Gln
NM_001136131.3:c.1765A>C	NP_001129603.1:p.Lys589Gln
NM_001385253.1:c.1927A>C	NP_001372182.1:p.Lys643Gln