Canonical Allele Identifier: CA511686155

Gene: APP

Linked Data

• ClinVar Variation Id: 2903084
• ClinVar RCV Id: RCV003622084
• dbSNP Id: rs2038158128
• gnomAD v4: 21-25897591-T-C
• MyVariant Identifiers: chr21:g.27269903T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897591T>C , CM000683.2:g.25897591T>C	GRCh38
NC_000021.8:g.27269903T>C , CM000683.1:g.27269903T>C	GRCh37
NC_000021.7:g.26191774T>C	NCBI36
NG_007376.1:g.278230A>G
NG_007376.2:g.278538A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2013A>G
ENST00000707133.1:n.443A>G
ENST00000707134.1:n.712A>G
ENST00000346798.8:c.2046A>G MANE Select	ENSP00000284981.4:p.Glu682=
ENST00000346798.7:c.2046A>G	ENSP00000284981.4:p.Glu682=
ENST00000348990.9:c.1821A>G	ENSP00000345463.5:p.Glu607=
ENST00000354192.7:c.1653A>G	ENSP00000346129.3:p.Glu551=
ENST00000357903.7:c.1989A>G	ENSP00000350578.3:p.Glu663=
ENST00000358918.7:c.1992A>G	ENSP00000351796.3:p.Glu664=
ENST00000359726.7:c.1716A>G	ENSP00000352760.4:p.Glu572=
ENST00000439274.6:c.1878A>G	ENSP00000398879.2:p.Glu626=
ENST00000440126.7:c.1974A>G	ENSP00000387483.2:p.Glu658=
ENST00000464867.1:n.393A>G
NM_000484.3:c.2046A>G	NP_000475.1:p.Glu682=
NM_001136016.3:c.1974A>G	NP_001129488.1:p.Glu658=
NM_001136129.2:c.1653A>G	NP_001129601.1:p.Glu551=
NM_001136130.2:c.1878A>G	NP_001129602.1:p.Glu626=
NM_001136131.2:c.1716A>G	NP_001129603.1:p.Glu572=
NM_001204301.1:c.1992A>G	NP_001191230.1:p.Glu664=
NM_001204302.1:c.1935A>G	NP_001191231.1:p.Glu645=
NM_001204303.1:c.1767A>G	NP_001191232.1:p.Glu589=
NM_201413.2:c.1989A>G	NP_958816.1:p.Glu663=
NM_201414.2:c.1821A>G	NP_958817.1:p.Glu607=
NM_000484.4:c.2046A>G MANE Select	NP_000475.1:p.Glu682=
NM_001136129.3:c.1653A>G	NP_001129601.1:p.Glu551=
NM_001136130.3:c.1878A>G	NP_001129602.1:p.Glu626=
NM_001204301.2:c.1992A>G	NP_001191230.1:p.Glu664=
NM_001204302.2:c.1935A>G	NP_001191231.1:p.Glu645=
NM_001204303.2:c.1767A>G	NP_001191232.1:p.Glu589=
NM_201413.3:c.1989A>G	NP_958816.1:p.Glu663=
NM_201414.3:c.1821A>G	NP_958817.1:p.Glu607=
NM_001136131.3:c.1716A>G	NP_001129603.1:p.Glu572=
NM_001385253.1:c.1878A>G	NP_001372182.1:p.Glu626=