Canonical Allele Identifier: CA9987057

Gene: APP

Linked Data

• ClinVar Variation Id: 339629
• ClinVar RCV Id: RCV000019719 ; RCV000710591 ; RCV001082457 ; RCV001580125 ; RCV002488729
• dbSNP Id: rs148888161
• ExAC: 21:27264121 G / A
• gnomAD v2: 21-27264121-G-A
• gnomAD v3: 21-25891809-G-A
• gnomAD v4: 21-25891809-G-A
• COSMIC: COSM1413495
• MyVariant Identifiers: chr21:g.27264121G>A (hg19) ; chr21:g.25891809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891809G>A , CM000683.2:g.25891809G>A	GRCh38
NC_000021.8:g.27264121G>A , CM000683.1:g.27264121G>A	GRCh37
NC_000021.7:g.26185992G>A	NCBI36
NG_007376.1:g.284012C>T
NG_007376.2:g.284320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2091C>T
ENST00000707133.1:n.521C>T
ENST00000707134.1:n.790C>T
ENST00000346798.8:c.2124C>T MANE Select	ENSP00000284981.4:p.Gly708=
ENST00000346798.7:c.2124C>T	ENSP00000284981.4:p.Gly708=
ENST00000348990.9:c.1899C>T	ENSP00000345463.5:p.Gly633=
ENST00000354192.7:c.1731C>T	ENSP00000346129.3:p.Gly577=
ENST00000357903.7:c.2067C>T	ENSP00000350578.3:p.Gly689=
ENST00000358918.7:c.2070C>T	ENSP00000351796.3:p.Gly690=
ENST00000359726.7:c.1794C>T	ENSP00000352760.4:p.Gly598=
ENST00000439274.6:c.1956C>T	ENSP00000398879.2:p.Gly652=
ENST00000440126.7:c.2052C>T	ENSP00000387483.2:p.Gly684=
ENST00000464867.1:n.471C>T
NM_000484.3:c.2124C>T	NP_000475.1:p.Gly708=
NM_001136016.3:c.2052C>T	NP_001129488.1:p.Gly684=
NM_001136129.2:c.1731C>T	NP_001129601.1:p.Gly577=
NM_001136130.2:c.1956C>T	NP_001129602.1:p.Gly652=
NM_001136131.2:c.1794C>T	NP_001129603.1:p.Gly598=
NM_001204301.1:c.2070C>T	NP_001191230.1:p.Gly690=
NM_001204302.1:c.2013C>T	NP_001191231.1:p.Gly671=
NM_001204303.1:c.1845C>T	NP_001191232.1:p.Gly615=
NM_201413.2:c.2067C>T	NP_958816.1:p.Gly689=
NM_201414.2:c.1899C>T	NP_958817.1:p.Gly633=
NM_000484.4:c.2124C>T MANE Select	NP_000475.1:p.Gly708=
NM_001136129.3:c.1731C>T	NP_001129601.1:p.Gly577=
NM_001136130.3:c.1956C>T	NP_001129602.1:p.Gly652=
NM_001204301.2:c.2070C>T	NP_001191230.1:p.Gly690=
NM_001204302.2:c.2013C>T	NP_001191231.1:p.Gly671=
NM_001204303.2:c.1845C>T	NP_001191232.1:p.Gly615=
NM_201413.3:c.2067C>T	NP_958816.1:p.Gly689=
NM_201414.3:c.1899C>T	NP_958817.1:p.Gly633=
NM_001136131.3:c.1794C>T	NP_001129603.1:p.Gly598=
NM_001385253.1:c.1956C>T	NP_001372182.1:p.Gly652=