Canonical Allele Identifier: CA511686007

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264112G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891800G>C , CM000683.2:g.25891800G>C	GRCh38
NC_000021.8:g.27264112G>C , CM000683.1:g.27264112G>C	GRCh37
NC_000021.7:g.26185983G>C	NCBI36
NG_007376.1:g.284021C>G
NG_007376.2:g.284329C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2100C>G
ENST00000707133.1:n.530C>G
ENST00000707134.1:n.799C>G
ENST00000346798.8:c.2133C>G MANE Select	ENSP00000284981.4:p.Val711=
ENST00000346798.7:c.2133C>G	ENSP00000284981.4:p.Val711=
ENST00000348990.9:c.1908C>G	ENSP00000345463.5:p.Val636=
ENST00000354192.7:c.1740C>G	ENSP00000346129.3:p.Val580=
ENST00000357903.7:c.2076C>G	ENSP00000350578.3:p.Val692=
ENST00000358918.7:c.2079C>G	ENSP00000351796.3:p.Val693=
ENST00000359726.7:c.1803C>G	ENSP00000352760.4:p.Val601=
ENST00000439274.6:c.1965C>G	ENSP00000398879.2:p.Val655=
ENST00000440126.7:c.2061C>G	ENSP00000387483.2:p.Val687=
ENST00000464867.1:n.480C>G
NM_000484.3:c.2133C>G	NP_000475.1:p.Val711=
NM_001136016.3:c.2061C>G	NP_001129488.1:p.Val687=
NM_001136129.2:c.1740C>G	NP_001129601.1:p.Val580=
NM_001136130.2:c.1965C>G	NP_001129602.1:p.Val655=
NM_001136131.2:c.1803C>G	NP_001129603.1:p.Val601=
NM_001204301.1:c.2079C>G	NP_001191230.1:p.Val693=
NM_001204302.1:c.2022C>G	NP_001191231.1:p.Val674=
NM_001204303.1:c.1854C>G	NP_001191232.1:p.Val618=
NM_201413.2:c.2076C>G	NP_958816.1:p.Val692=
NM_201414.2:c.1908C>G	NP_958817.1:p.Val636=
NM_000484.4:c.2133C>G MANE Select	NP_000475.1:p.Val711=
NM_001136129.3:c.1740C>G	NP_001129601.1:p.Val580=
NM_001136130.3:c.1965C>G	NP_001129602.1:p.Val655=
NM_001204301.2:c.2079C>G	NP_001191230.1:p.Val693=
NM_001204302.2:c.2022C>G	NP_001191231.1:p.Val674=
NM_001204303.2:c.1854C>G	NP_001191232.1:p.Val618=
NM_201413.3:c.2076C>G	NP_958816.1:p.Val692=
NM_201414.3:c.1908C>G	NP_958817.1:p.Val636=
NM_001136131.3:c.1803C>G	NP_001129603.1:p.Val601=
NM_001385253.1:c.1965C>G	NP_001372182.1:p.Val655=