Canonical Allele Identifier: CA127790

Gene: APP

Linked Data

• ClinVar Variation Id: 18087
• ClinVar RCV Id: RCV000019713 ; RCV001386879 ; RCV002272024
• dbSNP Id: rs63750579
• MyVariant Identifiers: chr21:g.27264168C>G (hg19) ; chr21:g.25891856C>G (hg38)
• PubMed: PMID:1679289 ; PMID:2111584 ; PMID:9848098 ; PMID:10821838

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891856C>G , CM000683.2:g.25891856C>G	GRCh38
NC_000021.8:g.27264168C>G , CM000683.1:g.27264168C>G	GRCh37
NC_000021.7:g.26186039C>G	NCBI36
NG_007376.1:g.283965G>C
NG_007376.2:g.284273G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2044G>C
ENST00000707133.1:n.474G>C
ENST00000707134.1:n.743G>C
ENST00000346798.8:c.2077G>C MANE Select	ENSP00000284981.4:p.Glu693Gln
ENST00000346798.7:c.2077G>C	ENSP00000284981.4:p.Glu693Gln
ENST00000348990.9:c.1852G>C	ENSP00000345463.5:p.Glu618Gln
ENST00000354192.7:c.1684G>C	ENSP00000346129.3:p.Glu562Gln
ENST00000357903.7:c.2020G>C	ENSP00000350578.3:p.Glu674Gln
ENST00000358918.7:c.2023G>C	ENSP00000351796.3:p.Glu675Gln
ENST00000359726.7:c.1747G>C	ENSP00000352760.4:p.Glu583Gln
ENST00000439274.6:c.1909G>C	ENSP00000398879.2:p.Glu637Gln
ENST00000440126.7:c.2005G>C	ENSP00000387483.2:p.Glu669Gln
ENST00000464867.1:n.424G>C
NM_000484.3:c.2077G>C	NP_000475.1:p.Glu693Gln
NM_001136016.3:c.2005G>C	NP_001129488.1:p.Glu669Gln
NM_001136129.2:c.1684G>C	NP_001129601.1:p.Glu562Gln
NM_001136130.2:c.1909G>C	NP_001129602.1:p.Glu637Gln
NM_001136131.2:c.1747G>C	NP_001129603.1:p.Glu583Gln
NM_001204301.1:c.2023G>C	NP_001191230.1:p.Glu675Gln
NM_001204302.1:c.1966G>C	NP_001191231.1:p.Glu656Gln
NM_001204303.1:c.1798G>C	NP_001191232.1:p.Glu600Gln
NM_201413.2:c.2020G>C	NP_958816.1:p.Glu674Gln
NM_201414.2:c.1852G>C	NP_958817.1:p.Glu618Gln
NM_000484.4:c.2077G>C MANE Select	NP_000475.1:p.Glu693Gln
NM_001136129.3:c.1684G>C	NP_001129601.1:p.Glu562Gln
NM_001136130.3:c.1909G>C	NP_001129602.1:p.Glu637Gln
NM_001204301.2:c.2023G>C	NP_001191230.1:p.Glu675Gln
NM_001204302.2:c.1966G>C	NP_001191231.1:p.Glu656Gln
NM_001204303.2:c.1798G>C	NP_001191232.1:p.Glu600Gln
NM_201413.3:c.2020G>C	NP_958816.1:p.Glu674Gln
NM_201414.3:c.1852G>C	NP_958817.1:p.Glu618Gln
NM_001136131.3:c.1747G>C	NP_001129603.1:p.Glu583Gln
NM_001385253.1:c.1909G>C	NP_001372182.1:p.Glu637Gln