Canonical Allele Identifier: CA511686375
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs1747037723
MyVariant Identifiers: chr21:g.27269975C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897663C>T , CM000683.2:g.25897663C>T GRCh38
NC_000021.8:g.27269975C>T , CM000683.1:g.27269975C>T GRCh37
NC_000021.7:g.26191846C>T NCBI36
NG_007376.1:g.278158G>A
NG_007376.2:g.278466G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1941G>A
ENST00000707133.1:n.371G>A
ENST00000707134.1:n.640G>A
ENST00000346798.8:c.1974G>A MANE Select ENSP00000284981.4:p.Leu658=
ENST00000346798.7:c.1974G>A ENSP00000284981.4:p.Leu658=
ENST00000348990.9:c.1749G>A ENSP00000345463.5:p.Leu583=
ENST00000354192.7:c.1581G>A ENSP00000346129.3:p.Leu527=
ENST00000357903.7:c.1917G>A ENSP00000350578.3:p.Leu639=
ENST00000358918.7:c.1920G>A ENSP00000351796.3:p.Leu640=
ENST00000359726.7:c.1644G>A ENSP00000352760.4:p.Leu548=
ENST00000439274.6:c.1806G>A ENSP00000398879.2:p.Leu602=
ENST00000440126.7:c.1902G>A ENSP00000387483.2:p.Leu634=
ENST00000464867.1:n.321G>A
NM_000484.3:c.1974G>A NP_000475.1:p.Leu658=
NM_001136016.3:c.1902G>A NP_001129488.1:p.Leu634=
NM_001136129.2:c.1581G>A NP_001129601.1:p.Leu527=
NM_001136130.2:c.1806G>A NP_001129602.1:p.Leu602=
NM_001136131.2:c.1644G>A NP_001129603.1:p.Leu548=
NM_001204301.1:c.1920G>A NP_001191230.1:p.Leu640=
NM_001204302.1:c.1863G>A NP_001191231.1:p.Leu621=
NM_001204303.1:c.1695G>A NP_001191232.1:p.Leu565=
NM_201413.2:c.1917G>A NP_958816.1:p.Leu639=
NM_201414.2:c.1749G>A NP_958817.1:p.Leu583=
NM_000484.4:c.1974G>A MANE Select NP_000475.1:p.Leu658=
NM_001136129.3:c.1581G>A NP_001129601.1:p.Leu527=
NM_001136130.3:c.1806G>A NP_001129602.1:p.Leu602=
NM_001204301.2:c.1920G>A NP_001191230.1:p.Leu640=
NM_001204302.2:c.1863G>A NP_001191231.1:p.Leu621=
NM_001204303.2:c.1695G>A NP_001191232.1:p.Leu565=
NM_201413.3:c.1917G>A NP_958816.1:p.Leu639=
NM_201414.3:c.1749G>A NP_958817.1:p.Leu583=
NM_001136131.3:c.1644G>A NP_001129603.1:p.Leu548=
NM_001385253.1:c.1806G>A NP_001372182.1:p.Leu602=