Canonical Allele Identifier: CA511685972
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264061G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891749G>A , CM000683.2:g.25891749G>A GRCh38
NC_000021.8:g.27264061G>A , CM000683.1:g.27264061G>A GRCh37
NC_000021.7:g.26185932G>A NCBI36
NG_007376.1:g.284072C>T
NG_007376.2:g.284380C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2151C>T
ENST00000707133.1:n.581C>T
ENST00000707134.1:n.850C>T
ENST00000346798.8:c.2184C>T MANE Select ENSP00000284981.4:p.Tyr728=
ENST00000346798.7:c.2184C>T ENSP00000284981.4:p.Tyr728=
ENST00000348990.9:c.1959C>T ENSP00000345463.5:p.Tyr653=
ENST00000354192.7:c.1791C>T ENSP00000346129.3:p.Tyr597=
ENST00000357903.7:c.2127C>T ENSP00000350578.3:p.Tyr709=
ENST00000358918.7:c.2130C>T ENSP00000351796.3:p.Tyr710=
ENST00000359726.7:c.1854C>T ENSP00000352760.4:p.Tyr618=
ENST00000439274.6:c.2016C>T ENSP00000398879.2:p.Tyr672=
ENST00000440126.7:c.2112C>T ENSP00000387483.2:p.Tyr704=
ENST00000464867.1:n.531C>T
NM_000484.3:c.2184C>T NP_000475.1:p.Tyr728=
NM_001136016.3:c.2112C>T NP_001129488.1:p.Tyr704=
NM_001136129.2:c.1791C>T NP_001129601.1:p.Tyr597=
NM_001136130.2:c.2016C>T NP_001129602.1:p.Tyr672=
NM_001136131.2:c.1854C>T NP_001129603.1:p.Tyr618=
NM_001204301.1:c.2130C>T NP_001191230.1:p.Tyr710=
NM_001204302.1:c.2073C>T NP_001191231.1:p.Tyr691=
NM_001204303.1:c.1905C>T NP_001191232.1:p.Tyr635=
NM_201413.2:c.2127C>T NP_958816.1:p.Tyr709=
NM_201414.2:c.1959C>T NP_958817.1:p.Tyr653=
NM_000484.4:c.2184C>T MANE Select NP_000475.1:p.Tyr728=
NM_001136129.3:c.1791C>T NP_001129601.1:p.Tyr597=
NM_001136130.3:c.2016C>T NP_001129602.1:p.Tyr672=
NM_001204301.2:c.2130C>T NP_001191230.1:p.Tyr710=
NM_001204302.2:c.2073C>T NP_001191231.1:p.Tyr691=
NM_001204303.2:c.1905C>T NP_001191232.1:p.Tyr635=
NM_201413.3:c.2127C>T NP_958816.1:p.Tyr709=
NM_201414.3:c.1959C>T NP_958817.1:p.Tyr653=
NM_001136131.3:c.1854C>T NP_001129603.1:p.Tyr618=
NM_001385253.1:c.2016C>T NP_001372182.1:p.Tyr672=