Canonical Allele Identifier: CA409805583

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264116A>G (hg19) ; chr21:g.25891804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891804A>G , CM000683.2:g.25891804A>G	GRCh38
NC_000021.8:g.27264116A>G , CM000683.1:g.27264116A>G	GRCh37
NC_000021.7:g.26185987A>G	NCBI36
NG_007376.1:g.284017T>C
NG_007376.2:g.284325T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2096T>C
ENST00000707133.1:n.526T>C
ENST00000707134.1:n.795T>C
ENST00000346798.8:c.2129T>C MANE Select	ENSP00000284981.4:p.Val710Ala
ENST00000346798.7:c.2129T>C	ENSP00000284981.4:p.Val710Ala
ENST00000348990.9:c.1904T>C	ENSP00000345463.5:p.Val635Ala
ENST00000354192.7:c.1736T>C	ENSP00000346129.3:p.Val579Ala
ENST00000357903.7:c.2072T>C	ENSP00000350578.3:p.Val691Ala
ENST00000358918.7:c.2075T>C	ENSP00000351796.3:p.Val692Ala
ENST00000359726.7:c.1799T>C	ENSP00000352760.4:p.Val600Ala
ENST00000439274.6:c.1961T>C	ENSP00000398879.2:p.Val654Ala
ENST00000440126.7:c.2057T>C	ENSP00000387483.2:p.Val686Ala
ENST00000464867.1:n.476T>C
NM_000484.3:c.2129T>C	NP_000475.1:p.Val710Ala
NM_001136016.3:c.2057T>C	NP_001129488.1:p.Val686Ala
NM_001136129.2:c.1736T>C	NP_001129601.1:p.Val579Ala
NM_001136130.2:c.1961T>C	NP_001129602.1:p.Val654Ala
NM_001136131.2:c.1799T>C	NP_001129603.1:p.Val600Ala
NM_001204301.1:c.2075T>C	NP_001191230.1:p.Val692Ala
NM_001204302.1:c.2018T>C	NP_001191231.1:p.Val673Ala
NM_001204303.1:c.1850T>C	NP_001191232.1:p.Val617Ala
NM_201413.2:c.2072T>C	NP_958816.1:p.Val691Ala
NM_201414.2:c.1904T>C	NP_958817.1:p.Val635Ala
NM_000484.4:c.2129T>C MANE Select	NP_000475.1:p.Val710Ala
NM_001136129.3:c.1736T>C	NP_001129601.1:p.Val579Ala
NM_001136130.3:c.1961T>C	NP_001129602.1:p.Val654Ala
NM_001204301.2:c.2075T>C	NP_001191230.1:p.Val692Ala
NM_001204302.2:c.2018T>C	NP_001191231.1:p.Val673Ala
NM_001204303.2:c.1850T>C	NP_001191232.1:p.Val617Ala
NM_201413.3:c.2072T>C	NP_958816.1:p.Val691Ala
NM_201414.3:c.1904T>C	NP_958817.1:p.Val635Ala
NM_001136131.3:c.1799T>C	NP_001129603.1:p.Val600Ala
NM_001385253.1:c.1961T>C	NP_001372182.1:p.Val654Ala