Canonical Allele Identifier: CA409805586

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264117C>G (hg19) ; chr21:g.25891805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891805C>G , CM000683.2:g.25891805C>G	GRCh38
NC_000021.8:g.27264117C>G , CM000683.1:g.27264117C>G	GRCh37
NC_000021.7:g.26185988C>G	NCBI36
NG_007376.1:g.284016G>C
NG_007376.2:g.284324G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2095G>C
ENST00000707133.1:n.525G>C
ENST00000707134.1:n.794G>C
ENST00000346798.8:c.2128G>C MANE Select	ENSP00000284981.4:p.Val710Leu
ENST00000346798.7:c.2128G>C	ENSP00000284981.4:p.Val710Leu
ENST00000348990.9:c.1903G>C	ENSP00000345463.5:p.Val635Leu
ENST00000354192.7:c.1735G>C	ENSP00000346129.3:p.Val579Leu
ENST00000357903.7:c.2071G>C	ENSP00000350578.3:p.Val691Leu
ENST00000358918.7:c.2074G>C	ENSP00000351796.3:p.Val692Leu
ENST00000359726.7:c.1798G>C	ENSP00000352760.4:p.Val600Leu
ENST00000439274.6:c.1960G>C	ENSP00000398879.2:p.Val654Leu
ENST00000440126.7:c.2056G>C	ENSP00000387483.2:p.Val686Leu
ENST00000464867.1:n.475G>C
NM_000484.3:c.2128G>C	NP_000475.1:p.Val710Leu
NM_001136016.3:c.2056G>C	NP_001129488.1:p.Val686Leu
NM_001136129.2:c.1735G>C	NP_001129601.1:p.Val579Leu
NM_001136130.2:c.1960G>C	NP_001129602.1:p.Val654Leu
NM_001136131.2:c.1798G>C	NP_001129603.1:p.Val600Leu
NM_001204301.1:c.2074G>C	NP_001191230.1:p.Val692Leu
NM_001204302.1:c.2017G>C	NP_001191231.1:p.Val673Leu
NM_001204303.1:c.1849G>C	NP_001191232.1:p.Val617Leu
NM_201413.2:c.2071G>C	NP_958816.1:p.Val691Leu
NM_201414.2:c.1903G>C	NP_958817.1:p.Val635Leu
NM_000484.4:c.2128G>C MANE Select	NP_000475.1:p.Val710Leu
NM_001136129.3:c.1735G>C	NP_001129601.1:p.Val579Leu
NM_001136130.3:c.1960G>C	NP_001129602.1:p.Val654Leu
NM_001204301.2:c.2074G>C	NP_001191230.1:p.Val692Leu
NM_001204302.2:c.2017G>C	NP_001191231.1:p.Val673Leu
NM_001204303.2:c.1849G>C	NP_001191232.1:p.Val617Leu
NM_201413.3:c.2071G>C	NP_958816.1:p.Val691Leu
NM_201414.3:c.1903G>C	NP_958817.1:p.Val635Leu
NM_001136131.3:c.1798G>C	NP_001129603.1:p.Val600Leu
NM_001385253.1:c.1960G>C	NP_001372182.1:p.Val654Leu