Canonical Allele Identifier: CA409805550

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891783A>G , CM000683.2:g.25891783A>G	GRCh38
NC_000021.8:g.27264095A>G , CM000683.1:g.27264095A>G	GRCh37
NC_000021.7:g.26185966A>G	NCBI36
NG_007376.1:g.284038T>C
NG_007376.2:g.284346T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2150T>C MANE Select	NP_000475.1:p.Val717Ala
ENST00000346798.8:c.2150T>C MANE Select	ENSP00000284981.4:p.Val717Ala
NM_000484.3:c.2150T>C	NP_000475.1:p.Val717Ala
NM_001136016.3:c.2078T>C	NP_001129488.1:p.Val693Ala
NM_001136129.2:c.1757T>C	NP_001129601.1:p.Val586Ala
NM_001136129.3:c.1757T>C	NP_001129601.1:p.Val586Ala
NM_001136130.2:c.1982T>C	NP_001129602.1:p.Val661Ala
NM_001136130.3:c.1982T>C	NP_001129602.1:p.Val661Ala
NM_001136131.2:c.1820T>C	NP_001129603.1:p.Val607Ala
NM_001136131.3:c.1820T>C	NP_001129603.1:p.Val607Ala
NM_001204301.1:c.2096T>C	NP_001191230.1:p.Val699Ala
NM_001204301.2:c.2096T>C	NP_001191230.1:p.Val699Ala
NM_001204302.1:c.2039T>C	NP_001191231.1:p.Val680Ala
NM_001204302.2:c.2039T>C	NP_001191231.1:p.Val680Ala
NM_001204303.1:c.1871T>C	NP_001191232.1:p.Val624Ala
NM_001204303.2:c.1871T>C	NP_001191232.1:p.Val624Ala
NM_001385253.1:c.1982T>C	NP_001372182.1:p.Val661Ala
NM_201413.2:c.2093T>C	NP_958816.1:p.Val698Ala
NM_201413.3:c.2093T>C	NP_958816.1:p.Val698Ala
NM_201414.2:c.1925T>C	NP_958817.1:p.Val642Ala
NM_201414.3:c.1925T>C	NP_958817.1:p.Val642Ala
ENST00000346798.7:c.2150T>C	ENSP00000284981.4:p.Val717Ala
ENST00000348990.9:c.1925T>C	ENSP00000345463.5:p.Val642Ala
ENST00000354192.7:c.1757T>C	ENSP00000346129.3:p.Val586Ala
ENST00000357903.7:c.2093T>C	ENSP00000350578.3:p.Val698Ala
ENST00000358918.7:c.2096T>C	ENSP00000351796.3:p.Val699Ala
ENST00000359726.7:c.1820T>C	ENSP00000352760.4:p.Val607Ala
ENST00000439274.6:c.1982T>C	ENSP00000398879.2:p.Val661Ala
ENST00000440126.7:c.2078T>C	ENSP00000387483.2:p.Val693Ala
ENST00000464867.1:n.497T>C
ENST00000707132.1:n.2117T>C
ENST00000707133.1:n.547T>C
ENST00000707134.1:n.816T>C