Canonical Allele Identifier: CA127794

Gene: APP

Linked Data

• ClinVar Variation Id: 18091
• ClinVar RCV Id: RCV000019718 ; RCV000019717 ; RCV000020306 ; RCV000084561
• dbSNP Id: rs63750671
• MyVariant Identifiers: chr21:g.27264170G>C (hg19) ; chr21:g.25891858G>C (hg38)
• PubMed: PMID:1303239 ; PMID:9754958 ; PMID:9848098 ; PMID:11004129 ; PMID:11311152 ; PMID:20301414

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891858G>C , CM000683.2:g.25891858G>C	GRCh38
NC_000021.8:g.27264170G>C , CM000683.1:g.27264170G>C	GRCh37
NC_000021.7:g.26186041G>C	NCBI36
NG_007376.1:g.283963C>G
NG_007376.2:g.284271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2042C>G
ENST00000707133.1:n.472C>G
ENST00000707134.1:n.741C>G
ENST00000346798.8:c.2075C>G MANE Select	ENSP00000284981.4:p.Ala692Gly
ENST00000346798.7:c.2075C>G	ENSP00000284981.4:p.Ala692Gly
ENST00000348990.9:c.1850C>G	ENSP00000345463.5:p.Ala617Gly
ENST00000354192.7:c.1682C>G	ENSP00000346129.3:p.Ala561Gly
ENST00000357903.7:c.2018C>G	ENSP00000350578.3:p.Ala673Gly
ENST00000358918.7:c.2021C>G	ENSP00000351796.3:p.Ala674Gly
ENST00000359726.7:c.1745C>G	ENSP00000352760.4:p.Ala582Gly
ENST00000439274.6:c.1907C>G	ENSP00000398879.2:p.Ala636Gly
ENST00000440126.7:c.2003C>G	ENSP00000387483.2:p.Ala668Gly
ENST00000464867.1:n.422C>G
NM_000484.3:c.2075C>G	NP_000475.1:p.Ala692Gly
NM_001136016.3:c.2003C>G	NP_001129488.1:p.Ala668Gly
NM_001136129.2:c.1682C>G	NP_001129601.1:p.Ala561Gly
NM_001136130.2:c.1907C>G	NP_001129602.1:p.Ala636Gly
NM_001136131.2:c.1745C>G	NP_001129603.1:p.Ala582Gly
NM_001204301.1:c.2021C>G	NP_001191230.1:p.Ala674Gly
NM_001204302.1:c.1964C>G	NP_001191231.1:p.Ala655Gly
NM_001204303.1:c.1796C>G	NP_001191232.1:p.Ala599Gly
NM_201413.2:c.2018C>G	NP_958816.1:p.Ala673Gly
NM_201414.2:c.1850C>G	NP_958817.1:p.Ala617Gly
NM_000484.4:c.2075C>G MANE Select	NP_000475.1:p.Ala692Gly
NM_001136129.3:c.1682C>G	NP_001129601.1:p.Ala561Gly
NM_001136130.3:c.1907C>G	NP_001129602.1:p.Ala636Gly
NM_001204301.2:c.2021C>G	NP_001191230.1:p.Ala674Gly
NM_001204302.2:c.1964C>G	NP_001191231.1:p.Ala655Gly
NM_001204303.2:c.1796C>G	NP_001191232.1:p.Ala599Gly
NM_201413.3:c.2018C>G	NP_958816.1:p.Ala673Gly
NM_201414.3:c.1850C>G	NP_958817.1:p.Ala617Gly
NM_001136131.3:c.1745C>G	NP_001129603.1:p.Ala582Gly
NM_001385253.1:c.1907C>G	NP_001372182.1:p.Ala636Gly