Canonical Allele Identifier: CA409805642

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264147C>G (hg19) ; chr21:g.25891835C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891835C>G , CM000683.2:g.25891835C>G	GRCh38
NC_000021.8:g.27264147C>G , CM000683.1:g.27264147C>G	GRCh37
NC_000021.7:g.26186018C>G	NCBI36
NG_007376.1:g.283986G>C
NG_007376.2:g.284294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2065G>C
ENST00000707133.1:n.495G>C
ENST00000707134.1:n.764G>C
ENST00000346798.8:c.2098G>C MANE Select	ENSP00000284981.4:p.Gly700Arg
ENST00000346798.7:c.2098G>C	ENSP00000284981.4:p.Gly700Arg
ENST00000348990.9:c.1873G>C	ENSP00000345463.5:p.Gly625Arg
ENST00000354192.7:c.1705G>C	ENSP00000346129.3:p.Gly569Arg
ENST00000357903.7:c.2041G>C	ENSP00000350578.3:p.Gly681Arg
ENST00000358918.7:c.2044G>C	ENSP00000351796.3:p.Gly682Arg
ENST00000359726.7:c.1768G>C	ENSP00000352760.4:p.Gly590Arg
ENST00000439274.6:c.1930G>C	ENSP00000398879.2:p.Gly644Arg
ENST00000440126.7:c.2026G>C	ENSP00000387483.2:p.Gly676Arg
ENST00000464867.1:n.445G>C
NM_000484.3:c.2098G>C	NP_000475.1:p.Gly700Arg
NM_001136016.3:c.2026G>C	NP_001129488.1:p.Gly676Arg
NM_001136129.2:c.1705G>C	NP_001129601.1:p.Gly569Arg
NM_001136130.2:c.1930G>C	NP_001129602.1:p.Gly644Arg
NM_001136131.2:c.1768G>C	NP_001129603.1:p.Gly590Arg
NM_001204301.1:c.2044G>C	NP_001191230.1:p.Gly682Arg
NM_001204302.1:c.1987G>C	NP_001191231.1:p.Gly663Arg
NM_001204303.1:c.1819G>C	NP_001191232.1:p.Gly607Arg
NM_201413.2:c.2041G>C	NP_958816.1:p.Gly681Arg
NM_201414.2:c.1873G>C	NP_958817.1:p.Gly625Arg
NM_000484.4:c.2098G>C MANE Select	NP_000475.1:p.Gly700Arg
NM_001136129.3:c.1705G>C	NP_001129601.1:p.Gly569Arg
NM_001136130.3:c.1930G>C	NP_001129602.1:p.Gly644Arg
NM_001204301.2:c.2044G>C	NP_001191230.1:p.Gly682Arg
NM_001204302.2:c.1987G>C	NP_001191231.1:p.Gly663Arg
NM_001204303.2:c.1819G>C	NP_001191232.1:p.Gly607Arg
NM_201413.3:c.2041G>C	NP_958816.1:p.Gly681Arg
NM_201414.3:c.1873G>C	NP_958817.1:p.Gly625Arg
NM_001136131.3:c.1768G>C	NP_001129603.1:p.Gly590Arg
NM_001385253.1:c.1930G>C	NP_001372182.1:p.Gly644Arg