Canonical Allele Identifier: CA409805671

Gene: APP

Linked Data

• ClinVar Variation Id: 2114799
• ClinVar RCV Id: RCV003032340
• MyVariant Identifiers: chr21:g.27264159C>T (hg19) ; chr21:g.25891847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891847C>T , CM000683.2:g.25891847C>T	GRCh38
NC_000021.8:g.27264159C>T , CM000683.1:g.27264159C>T	GRCh37
NC_000021.7:g.26186030C>T	NCBI36
NG_007376.1:g.283974G>A
NG_007376.2:g.284282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2053G>A
ENST00000707133.1:n.483G>A
ENST00000707134.1:n.752G>A
ENST00000346798.8:c.2086G>A MANE Select	ENSP00000284981.4:p.Gly696Ser
ENST00000346798.7:c.2086G>A	ENSP00000284981.4:p.Gly696Ser
ENST00000348990.9:c.1861G>A	ENSP00000345463.5:p.Gly621Ser
ENST00000354192.7:c.1693G>A	ENSP00000346129.3:p.Gly565Ser
ENST00000357903.7:c.2029G>A	ENSP00000350578.3:p.Gly677Ser
ENST00000358918.7:c.2032G>A	ENSP00000351796.3:p.Gly678Ser
ENST00000359726.7:c.1756G>A	ENSP00000352760.4:p.Gly586Ser
ENST00000439274.6:c.1918G>A	ENSP00000398879.2:p.Gly640Ser
ENST00000440126.7:c.2014G>A	ENSP00000387483.2:p.Gly672Ser
ENST00000464867.1:n.433G>A
NM_000484.3:c.2086G>A	NP_000475.1:p.Gly696Ser
NM_001136016.3:c.2014G>A	NP_001129488.1:p.Gly672Ser
NM_001136129.2:c.1693G>A	NP_001129601.1:p.Gly565Ser
NM_001136130.2:c.1918G>A	NP_001129602.1:p.Gly640Ser
NM_001136131.2:c.1756G>A	NP_001129603.1:p.Gly586Ser
NM_001204301.1:c.2032G>A	NP_001191230.1:p.Gly678Ser
NM_001204302.1:c.1975G>A	NP_001191231.1:p.Gly659Ser
NM_001204303.1:c.1807G>A	NP_001191232.1:p.Gly603Ser
NM_201413.2:c.2029G>A	NP_958816.1:p.Gly677Ser
NM_201414.2:c.1861G>A	NP_958817.1:p.Gly621Ser
NM_000484.4:c.2086G>A MANE Select	NP_000475.1:p.Gly696Ser
NM_001136129.3:c.1693G>A	NP_001129601.1:p.Gly565Ser
NM_001136130.3:c.1918G>A	NP_001129602.1:p.Gly640Ser
NM_001204301.2:c.2032G>A	NP_001191230.1:p.Gly678Ser
NM_001204302.2:c.1975G>A	NP_001191231.1:p.Gly659Ser
NM_001204303.2:c.1807G>A	NP_001191232.1:p.Gly603Ser
NM_201413.3:c.2029G>A	NP_958816.1:p.Gly677Ser
NM_201414.3:c.1861G>A	NP_958817.1:p.Gly621Ser
NM_001136131.3:c.1756G>A	NP_001129603.1:p.Gly586Ser
NM_001385253.1:c.1918G>A	NP_001372182.1:p.Gly640Ser