Canonical Allele Identifier: CA409805683

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264164T>G (hg19) ; chr21:g.25891852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891852T>G , CM000683.2:g.25891852T>G	GRCh38
NC_000021.8:g.27264164T>G , CM000683.1:g.27264164T>G	GRCh37
NC_000021.7:g.26186035T>G	NCBI36
NG_007376.1:g.283969A>C
NG_007376.2:g.284277A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2048A>C
ENST00000707133.1:n.478A>C
ENST00000707134.1:n.747A>C
ENST00000346798.8:c.2081A>C MANE Select	ENSP00000284981.4:p.Asp694Ala
ENST00000346798.7:c.2081A>C	ENSP00000284981.4:p.Asp694Ala
ENST00000348990.9:c.1856A>C	ENSP00000345463.5:p.Asp619Ala
ENST00000354192.7:c.1688A>C	ENSP00000346129.3:p.Asp563Ala
ENST00000357903.7:c.2024A>C	ENSP00000350578.3:p.Asp675Ala
ENST00000358918.7:c.2027A>C	ENSP00000351796.3:p.Asp676Ala
ENST00000359726.7:c.1751A>C	ENSP00000352760.4:p.Asp584Ala
ENST00000439274.6:c.1913A>C	ENSP00000398879.2:p.Asp638Ala
ENST00000440126.7:c.2009A>C	ENSP00000387483.2:p.Asp670Ala
ENST00000464867.1:n.428A>C
NM_000484.3:c.2081A>C	NP_000475.1:p.Asp694Ala
NM_001136016.3:c.2009A>C	NP_001129488.1:p.Asp670Ala
NM_001136129.2:c.1688A>C	NP_001129601.1:p.Asp563Ala
NM_001136130.2:c.1913A>C	NP_001129602.1:p.Asp638Ala
NM_001136131.2:c.1751A>C	NP_001129603.1:p.Asp584Ala
NM_001204301.1:c.2027A>C	NP_001191230.1:p.Asp676Ala
NM_001204302.1:c.1970A>C	NP_001191231.1:p.Asp657Ala
NM_001204303.1:c.1802A>C	NP_001191232.1:p.Asp601Ala
NM_201413.2:c.2024A>C	NP_958816.1:p.Asp675Ala
NM_201414.2:c.1856A>C	NP_958817.1:p.Asp619Ala
NM_000484.4:c.2081A>C MANE Select	NP_000475.1:p.Asp694Ala
NM_001136129.3:c.1688A>C	NP_001129601.1:p.Asp563Ala
NM_001136130.3:c.1913A>C	NP_001129602.1:p.Asp638Ala
NM_001204301.2:c.2027A>C	NP_001191230.1:p.Asp676Ala
NM_001204302.2:c.1970A>C	NP_001191231.1:p.Asp657Ala
NM_001204303.2:c.1802A>C	NP_001191232.1:p.Asp601Ala
NM_201413.3:c.2024A>C	NP_958816.1:p.Asp675Ala
NM_201414.3:c.1856A>C	NP_958817.1:p.Asp619Ala
NM_001136131.3:c.1751A>C	NP_001129603.1:p.Asp584Ala
NM_001385253.1:c.1913A>C	NP_001372182.1:p.Asp638Ala