Canonical Allele Identifier: CA127801

Gene: APP

Linked Data

• ClinVar Variation Id: 18098
• ClinVar RCV Id: RCV000019725 ; RCV000020307 ; RCV000019726 ; RCV000084563
• dbSNP Id: rs63751039
• MyVariant Identifiers: chr21:g.27264167T>C (hg19) ; chr21:g.25891855T>C (hg38)
• PubMed: PMID:1415269 ; PMID:10821838 ; PMID:11528419 ; PMID:15502844 ; PMID:18413473 ; PMID:20301414

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891855T>C , CM000683.2:g.25891855T>C	GRCh38
NC_000021.8:g.27264167T>C , CM000683.1:g.27264167T>C	GRCh37
NC_000021.7:g.26186038T>C	NCBI36
NG_007376.1:g.283966A>G
NG_007376.2:g.284274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2045A>G
ENST00000707133.1:n.475A>G
ENST00000707134.1:n.744A>G
ENST00000346798.8:c.2078A>G MANE Select	ENSP00000284981.4:p.Glu693Gly
ENST00000346798.7:c.2078A>G	ENSP00000284981.4:p.Glu693Gly
ENST00000348990.9:c.1853A>G	ENSP00000345463.5:p.Glu618Gly
ENST00000354192.7:c.1685A>G	ENSP00000346129.3:p.Glu562Gly
ENST00000357903.7:c.2021A>G	ENSP00000350578.3:p.Glu674Gly
ENST00000358918.7:c.2024A>G	ENSP00000351796.3:p.Glu675Gly
ENST00000359726.7:c.1748A>G	ENSP00000352760.4:p.Glu583Gly
ENST00000439274.6:c.1910A>G	ENSP00000398879.2:p.Glu637Gly
ENST00000440126.7:c.2006A>G	ENSP00000387483.2:p.Glu669Gly
ENST00000464867.1:n.425A>G
NM_000484.3:c.2078A>G	NP_000475.1:p.Glu693Gly
NM_001136016.3:c.2006A>G	NP_001129488.1:p.Glu669Gly
NM_001136129.2:c.1685A>G	NP_001129601.1:p.Glu562Gly
NM_001136130.2:c.1910A>G	NP_001129602.1:p.Glu637Gly
NM_001136131.2:c.1748A>G	NP_001129603.1:p.Glu583Gly
NM_001204301.1:c.2024A>G	NP_001191230.1:p.Glu675Gly
NM_001204302.1:c.1967A>G	NP_001191231.1:p.Glu656Gly
NM_001204303.1:c.1799A>G	NP_001191232.1:p.Glu600Gly
NM_201413.2:c.2021A>G	NP_958816.1:p.Glu674Gly
NM_201414.2:c.1853A>G	NP_958817.1:p.Glu618Gly
NM_000484.4:c.2078A>G MANE Select	NP_000475.1:p.Glu693Gly
NM_001136129.3:c.1685A>G	NP_001129601.1:p.Glu562Gly
NM_001136130.3:c.1910A>G	NP_001129602.1:p.Glu637Gly
NM_001204301.2:c.2024A>G	NP_001191230.1:p.Glu675Gly
NM_001204302.2:c.1967A>G	NP_001191231.1:p.Glu656Gly
NM_001204303.2:c.1799A>G	NP_001191232.1:p.Glu600Gly
NM_201413.3:c.2021A>G	NP_958816.1:p.Glu674Gly
NM_201414.3:c.1853A>G	NP_958817.1:p.Glu618Gly
NM_001136131.3:c.1748A>G	NP_001129603.1:p.Glu583Gly
NM_001385253.1:c.1910A>G	NP_001372182.1:p.Glu637Gly