Canonical Allele Identifier: CA9987060

Gene: APP

Linked Data

• dbSNP Id: rs775713536
• ExAC: 21:27264138 T / C
• gnomAD v2: 21-27264138-T-C
• gnomAD v3: 21-25891826-T-C
• gnomAD v4: 21-25891826-T-C
• MyVariant Identifiers: chr21:g.27264138T>C (hg19) ; chr21:g.25891826T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2074A>G
ENST00000707133.1:n.504A>G
ENST00000707134.1:n.773A>G
ENST00000346798.8:c.2107A>G MANE Select	ENSP00000284981.4:p.Ile703Val
ENST00000346798.7:c.2107A>G	ENSP00000284981.4:p.Ile703Val
ENST00000348990.9:c.1882A>G	ENSP00000345463.5:p.Ile628Val
ENST00000354192.7:c.1714A>G	ENSP00000346129.3:p.Ile572Val
ENST00000357903.7:c.2050A>G	ENSP00000350578.3:p.Ile684Val
ENST00000358918.7:c.2053A>G	ENSP00000351796.3:p.Ile685Val
ENST00000359726.7:c.1777A>G	ENSP00000352760.4:p.Ile593Val
ENST00000439274.6:c.1939A>G	ENSP00000398879.2:p.Ile647Val
ENST00000440126.7:c.2035A>G	ENSP00000387483.2:p.Ile679Val
ENST00000464867.1:n.454A>G
NM_000484.3:c.2107A>G	NP_000475.1:p.Ile703Val
NM_001136016.3:c.2035A>G	NP_001129488.1:p.Ile679Val
NM_001136129.2:c.1714A>G	NP_001129601.1:p.Ile572Val
NM_001136130.2:c.1939A>G	NP_001129602.1:p.Ile647Val
NM_001136131.2:c.1777A>G	NP_001129603.1:p.Ile593Val
NM_001204301.1:c.2053A>G	NP_001191230.1:p.Ile685Val
NM_001204302.1:c.1996A>G	NP_001191231.1:p.Ile666Val
NM_001204303.1:c.1828A>G	NP_001191232.1:p.Ile610Val
NM_201413.2:c.2050A>G	NP_958816.1:p.Ile684Val
NM_201414.2:c.1882A>G	NP_958817.1:p.Ile628Val
NM_000484.4:c.2107A>G MANE Select	NP_000475.1:p.Ile703Val
NM_001136129.3:c.1714A>G	NP_001129601.1:p.Ile572Val
NM_001136130.3:c.1939A>G	NP_001129602.1:p.Ile647Val
NM_001204301.2:c.2053A>G	NP_001191230.1:p.Ile685Val
NM_001204302.2:c.1996A>G	NP_001191231.1:p.Ile666Val
NM_001204303.2:c.1828A>G	NP_001191232.1:p.Ile610Val
NM_201413.3:c.2050A>G	NP_958816.1:p.Ile684Val
NM_201414.3:c.1882A>G	NP_958817.1:p.Ile628Val
NM_001136131.3:c.1777A>G	NP_001129603.1:p.Ile593Val
NM_001385253.1:c.1939A>G	NP_001372182.1:p.Ile647Val