Canonical Allele Identifier: CA9987093

Gene: APP

Linked Data

• dbSNP Id: rs767144744
• ExAC: 21:27269926 A / T
• gnomAD v2: 21-27269926-A-T
• gnomAD v4: 21-25897614-A-T
• MyVariant Identifiers: chr21:g.27269926A>T (hg19) ; chr21:g.25897614A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897614A>T , CM000683.2:g.25897614A>T	GRCh38
NC_000021.8:g.27269926A>T , CM000683.1:g.27269926A>T	GRCh37
NC_000021.7:g.26191797A>T	NCBI36
NG_007376.1:g.278207T>A
NG_007376.2:g.278515T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1990T>A
ENST00000707133.1:n.420T>A
ENST00000707134.1:n.689T>A
ENST00000346798.8:c.2023T>A MANE Select	ENSP00000284981.4:p.Phe675Ile
ENST00000346798.7:c.2023T>A	ENSP00000284981.4:p.Phe675Ile
ENST00000348990.9:c.1798T>A	ENSP00000345463.5:p.Phe600Ile
ENST00000354192.7:c.1630T>A	ENSP00000346129.3:p.Phe544Ile
ENST00000357903.7:c.1966T>A	ENSP00000350578.3:p.Phe656Ile
ENST00000358918.7:c.1969T>A	ENSP00000351796.3:p.Phe657Ile
ENST00000359726.7:c.1693T>A	ENSP00000352760.4:p.Phe565Ile
ENST00000439274.6:c.1855T>A	ENSP00000398879.2:p.Phe619Ile
ENST00000440126.7:c.1951T>A	ENSP00000387483.2:p.Phe651Ile
ENST00000464867.1:n.370T>A
NM_000484.3:c.2023T>A	NP_000475.1:p.Phe675Ile
NM_001136016.3:c.1951T>A	NP_001129488.1:p.Phe651Ile
NM_001136129.2:c.1630T>A	NP_001129601.1:p.Phe544Ile
NM_001136130.2:c.1855T>A	NP_001129602.1:p.Phe619Ile
NM_001136131.2:c.1693T>A	NP_001129603.1:p.Phe565Ile
NM_001204301.1:c.1969T>A	NP_001191230.1:p.Phe657Ile
NM_001204302.1:c.1912T>A	NP_001191231.1:p.Phe638Ile
NM_001204303.1:c.1744T>A	NP_001191232.1:p.Phe582Ile
NM_201413.2:c.1966T>A	NP_958816.1:p.Phe656Ile
NM_201414.2:c.1798T>A	NP_958817.1:p.Phe600Ile
NM_000484.4:c.2023T>A MANE Select	NP_000475.1:p.Phe675Ile
NM_001136129.3:c.1630T>A	NP_001129601.1:p.Phe544Ile
NM_001136130.3:c.1855T>A	NP_001129602.1:p.Phe619Ile
NM_001204301.2:c.1969T>A	NP_001191230.1:p.Phe657Ile
NM_001204302.2:c.1912T>A	NP_001191231.1:p.Phe638Ile
NM_001204303.2:c.1744T>A	NP_001191232.1:p.Phe582Ile
NM_201413.3:c.1966T>A	NP_958816.1:p.Phe656Ile
NM_201414.3:c.1798T>A	NP_958817.1:p.Phe600Ile
NM_001136131.3:c.1693T>A	NP_001129603.1:p.Phe565Ile
NM_001385253.1:c.1855T>A	NP_001372182.1:p.Phe619Ile