Canonical Allele Identifier: CA409805626

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264138T>G (hg19) ; chr21:g.25891826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891826T>G , CM000683.2:g.25891826T>G	GRCh38
NC_000021.8:g.27264138T>G , CM000683.1:g.27264138T>G	GRCh37
NC_000021.7:g.26186009T>G	NCBI36
NG_007376.1:g.283995A>C
NG_007376.2:g.284303A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2074A>C
ENST00000707133.1:n.504A>C
ENST00000707134.1:n.773A>C
ENST00000346798.8:c.2107A>C MANE Select	ENSP00000284981.4:p.Ile703Leu
ENST00000346798.7:c.2107A>C	ENSP00000284981.4:p.Ile703Leu
ENST00000348990.9:c.1882A>C	ENSP00000345463.5:p.Ile628Leu
ENST00000354192.7:c.1714A>C	ENSP00000346129.3:p.Ile572Leu
ENST00000357903.7:c.2050A>C	ENSP00000350578.3:p.Ile684Leu
ENST00000358918.7:c.2053A>C	ENSP00000351796.3:p.Ile685Leu
ENST00000359726.7:c.1777A>C	ENSP00000352760.4:p.Ile593Leu
ENST00000439274.6:c.1939A>C	ENSP00000398879.2:p.Ile647Leu
ENST00000440126.7:c.2035A>C	ENSP00000387483.2:p.Ile679Leu
ENST00000464867.1:n.454A>C
NM_000484.3:c.2107A>C	NP_000475.1:p.Ile703Leu
NM_001136016.3:c.2035A>C	NP_001129488.1:p.Ile679Leu
NM_001136129.2:c.1714A>C	NP_001129601.1:p.Ile572Leu
NM_001136130.2:c.1939A>C	NP_001129602.1:p.Ile647Leu
NM_001136131.2:c.1777A>C	NP_001129603.1:p.Ile593Leu
NM_001204301.1:c.2053A>C	NP_001191230.1:p.Ile685Leu
NM_001204302.1:c.1996A>C	NP_001191231.1:p.Ile666Leu
NM_001204303.1:c.1828A>C	NP_001191232.1:p.Ile610Leu
NM_201413.2:c.2050A>C	NP_958816.1:p.Ile684Leu
NM_201414.2:c.1882A>C	NP_958817.1:p.Ile628Leu
NM_000484.4:c.2107A>C MANE Select	NP_000475.1:p.Ile703Leu
NM_001136129.3:c.1714A>C	NP_001129601.1:p.Ile572Leu
NM_001136130.3:c.1939A>C	NP_001129602.1:p.Ile647Leu
NM_001204301.2:c.2053A>C	NP_001191230.1:p.Ile685Leu
NM_001204302.2:c.1996A>C	NP_001191231.1:p.Ile666Leu
NM_001204303.2:c.1828A>C	NP_001191232.1:p.Ile610Leu
NM_201413.3:c.2050A>C	NP_958816.1:p.Ile684Leu
NM_201414.3:c.1882A>C	NP_958817.1:p.Ile628Leu
NM_001136131.3:c.1777A>C	NP_001129603.1:p.Ile593Leu
NM_001385253.1:c.1939A>C	NP_001372182.1:p.Ile647Leu