Canonical Allele Identifier: CA511686032

Gene: APP

Linked Data

• dbSNP Id: rs1406164284
• gnomAD v2: 21-27264145-A-G
• gnomAD v3: 21-25891833-A-G
• gnomAD v4: 21-25891833-A-G
• MyVariant Identifiers: chr21:g.27264145A>G (hg19) ; chr21:g.25891833A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891833A>G , CM000683.2:g.25891833A>G	GRCh38
NC_000021.8:g.27264145A>G , CM000683.1:g.27264145A>G	GRCh37
NC_000021.7:g.26186016A>G	NCBI36
NG_007376.1:g.283988T>C
NG_007376.2:g.284296T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2067T>C
ENST00000707133.1:n.497T>C
ENST00000707134.1:n.766T>C
ENST00000346798.8:c.2100T>C MANE Select	ENSP00000284981.4:p.Gly700=
ENST00000346798.7:c.2100T>C	ENSP00000284981.4:p.Gly700=
ENST00000348990.9:c.1875T>C	ENSP00000345463.5:p.Gly625=
ENST00000354192.7:c.1707T>C	ENSP00000346129.3:p.Gly569=
ENST00000357903.7:c.2043T>C	ENSP00000350578.3:p.Gly681=
ENST00000358918.7:c.2046T>C	ENSP00000351796.3:p.Gly682=
ENST00000359726.7:c.1770T>C	ENSP00000352760.4:p.Gly590=
ENST00000439274.6:c.1932T>C	ENSP00000398879.2:p.Gly644=
ENST00000440126.7:c.2028T>C	ENSP00000387483.2:p.Gly676=
ENST00000464867.1:n.447T>C
NM_000484.3:c.2100T>C	NP_000475.1:p.Gly700=
NM_001136016.3:c.2028T>C	NP_001129488.1:p.Gly676=
NM_001136129.2:c.1707T>C	NP_001129601.1:p.Gly569=
NM_001136130.2:c.1932T>C	NP_001129602.1:p.Gly644=
NM_001136131.2:c.1770T>C	NP_001129603.1:p.Gly590=
NM_001204301.1:c.2046T>C	NP_001191230.1:p.Gly682=
NM_001204302.1:c.1989T>C	NP_001191231.1:p.Gly663=
NM_001204303.1:c.1821T>C	NP_001191232.1:p.Gly607=
NM_201413.2:c.2043T>C	NP_958816.1:p.Gly681=
NM_201414.2:c.1875T>C	NP_958817.1:p.Gly625=
NM_000484.4:c.2100T>C MANE Select	NP_000475.1:p.Gly700=
NM_001136129.3:c.1707T>C	NP_001129601.1:p.Gly569=
NM_001136130.3:c.1932T>C	NP_001129602.1:p.Gly644=
NM_001204301.2:c.2046T>C	NP_001191230.1:p.Gly682=
NM_001204302.2:c.1989T>C	NP_001191231.1:p.Gly663=
NM_001204303.2:c.1821T>C	NP_001191232.1:p.Gly607=
NM_201413.3:c.2043T>C	NP_958816.1:p.Gly681=
NM_201414.3:c.1875T>C	NP_958817.1:p.Gly625=
NM_001136131.3:c.1770T>C	NP_001129603.1:p.Gly590=
NM_001385253.1:c.1932T>C	NP_001372182.1:p.Gly644=