Canonical Allele Identifier: CA511686315
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269960C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897648C>A , CM000683.2:g.25897648C>A GRCh38
NC_000021.8:g.27269960C>A , CM000683.1:g.27269960C>A GRCh37
NC_000021.7:g.26191831C>A NCBI36
NG_007376.1:g.278173G>T
NG_007376.2:g.278481G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1956G>T
ENST00000707133.1:n.386G>T
ENST00000707134.1:n.655G>T
ENST00000346798.8:c.1989G>T MANE Select ENSP00000284981.4:p.Thr663=
ENST00000346798.7:c.1989G>T ENSP00000284981.4:p.Thr663=
ENST00000348990.9:c.1764G>T ENSP00000345463.5:p.Thr588=
ENST00000354192.7:c.1596G>T ENSP00000346129.3:p.Thr532=
ENST00000357903.7:c.1932G>T ENSP00000350578.3:p.Thr644=
ENST00000358918.7:c.1935G>T ENSP00000351796.3:p.Thr645=
ENST00000359726.7:c.1659G>T ENSP00000352760.4:p.Thr553=
ENST00000439274.6:c.1821G>T ENSP00000398879.2:p.Thr607=
ENST00000440126.7:c.1917G>T ENSP00000387483.2:p.Thr639=
ENST00000464867.1:n.336G>T
NM_000484.3:c.1989G>T NP_000475.1:p.Thr663=
NM_001136016.3:c.1917G>T NP_001129488.1:p.Thr639=
NM_001136129.2:c.1596G>T NP_001129601.1:p.Thr532=
NM_001136130.2:c.1821G>T NP_001129602.1:p.Thr607=
NM_001136131.2:c.1659G>T NP_001129603.1:p.Thr553=
NM_001204301.1:c.1935G>T NP_001191230.1:p.Thr645=
NM_001204302.1:c.1878G>T NP_001191231.1:p.Thr626=
NM_001204303.1:c.1710G>T NP_001191232.1:p.Thr570=
NM_201413.2:c.1932G>T NP_958816.1:p.Thr644=
NM_201414.2:c.1764G>T NP_958817.1:p.Thr588=
NM_000484.4:c.1989G>T MANE Select NP_000475.1:p.Thr663=
NM_001136129.3:c.1596G>T NP_001129601.1:p.Thr532=
NM_001136130.3:c.1821G>T NP_001129602.1:p.Thr607=
NM_001204301.2:c.1935G>T NP_001191230.1:p.Thr645=
NM_001204302.2:c.1878G>T NP_001191231.1:p.Thr626=
NM_001204303.2:c.1710G>T NP_001191232.1:p.Thr570=
NM_201413.3:c.1932G>T NP_958816.1:p.Thr644=
NM_201414.3:c.1764G>T NP_958817.1:p.Thr588=
NM_001136131.3:c.1659G>T NP_001129603.1:p.Thr553=
NM_001385253.1:c.1821G>T NP_001372182.1:p.Thr607=