Canonical Allele Identifier: CA9987059

Gene: APP

Linked Data

• ClinVar Variation Id: 1930341
• ClinVar RCV Id: RCV002626782
• dbSNP Id: rs200388443
• ExAC: 21:27264130 G / A
• gnomAD v2: 21-27264130-G-A
• gnomAD v3: 21-25891818-G-A
• gnomAD v4: 21-25891818-G-A
• MyVariant Identifiers: chr21:g.27264130G>A (hg19) ; chr21:g.25891818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891818G>A , CM000683.2:g.25891818G>A	GRCh38
NC_000021.8:g.27264130G>A , CM000683.1:g.27264130G>A	GRCh37
NC_000021.7:g.26186001G>A	NCBI36
NG_007376.1:g.284003C>T
NG_007376.2:g.284311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2082C>T
ENST00000707133.1:n.512C>T
ENST00000707134.1:n.781C>T
ENST00000346798.8:c.2115C>T MANE Select	ENSP00000284981.4:p.Leu705=
ENST00000346798.7:c.2115C>T	ENSP00000284981.4:p.Leu705=
ENST00000348990.9:c.1890C>T	ENSP00000345463.5:p.Leu630=
ENST00000354192.7:c.1722C>T	ENSP00000346129.3:p.Leu574=
ENST00000357903.7:c.2058C>T	ENSP00000350578.3:p.Leu686=
ENST00000358918.7:c.2061C>T	ENSP00000351796.3:p.Leu687=
ENST00000359726.7:c.1785C>T	ENSP00000352760.4:p.Leu595=
ENST00000439274.6:c.1947C>T	ENSP00000398879.2:p.Leu649=
ENST00000440126.7:c.2043C>T	ENSP00000387483.2:p.Leu681=
ENST00000464867.1:n.462C>T
NM_000484.3:c.2115C>T	NP_000475.1:p.Leu705=
NM_001136016.3:c.2043C>T	NP_001129488.1:p.Leu681=
NM_001136129.2:c.1722C>T	NP_001129601.1:p.Leu574=
NM_001136130.2:c.1947C>T	NP_001129602.1:p.Leu649=
NM_001136131.2:c.1785C>T	NP_001129603.1:p.Leu595=
NM_001204301.1:c.2061C>T	NP_001191230.1:p.Leu687=
NM_001204302.1:c.2004C>T	NP_001191231.1:p.Leu668=
NM_001204303.1:c.1836C>T	NP_001191232.1:p.Leu612=
NM_201413.2:c.2058C>T	NP_958816.1:p.Leu686=
NM_201414.2:c.1890C>T	NP_958817.1:p.Leu630=
NM_000484.4:c.2115C>T MANE Select	NP_000475.1:p.Leu705=
NM_001136129.3:c.1722C>T	NP_001129601.1:p.Leu574=
NM_001136130.3:c.1947C>T	NP_001129602.1:p.Leu649=
NM_001204301.2:c.2061C>T	NP_001191230.1:p.Leu687=
NM_001204302.2:c.2004C>T	NP_001191231.1:p.Leu668=
NM_001204303.2:c.1836C>T	NP_001191232.1:p.Leu612=
NM_201413.3:c.2058C>T	NP_958816.1:p.Leu686=
NM_201414.3:c.1890C>T	NP_958817.1:p.Leu630=
NM_001136131.3:c.1785C>T	NP_001129603.1:p.Leu595=
NM_001385253.1:c.1947C>T	NP_001372182.1:p.Leu649=