Canonical Allele Identifier: CA9987098

Gene: APP

Linked Data

• ClinVar Variation Id: 723763
• ClinVar RCV Id: RCV000897567
• dbSNP Id: rs147868600
• ExAC: 21:27269951 G / A
• gnomAD v2: 21-27269951-G-A
• gnomAD v3: 21-25897639-G-A
• gnomAD v4: 21-25897639-G-A
• MyVariant Identifiers: chr21:g.27269951G>A (hg19) ; chr21:g.25897639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897639G>A , CM000683.2:g.25897639G>A	GRCh38
NC_000021.8:g.27269951G>A , CM000683.1:g.27269951G>A	GRCh37
NC_000021.7:g.26191822G>A	NCBI36
NG_007376.1:g.278182C>T
NG_007376.2:g.278490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1965C>T
ENST00000707133.1:n.395C>T
ENST00000707134.1:n.664C>T
ENST00000346798.8:c.1998C>T MANE Select	ENSP00000284981.4:p.Ile666=
ENST00000346798.7:c.1998C>T	ENSP00000284981.4:p.Ile666=
ENST00000348990.9:c.1773C>T	ENSP00000345463.5:p.Ile591=
ENST00000354192.7:c.1605C>T	ENSP00000346129.3:p.Ile535=
ENST00000357903.7:c.1941C>T	ENSP00000350578.3:p.Ile647=
ENST00000358918.7:c.1944C>T	ENSP00000351796.3:p.Ile648=
ENST00000359726.7:c.1668C>T	ENSP00000352760.4:p.Ile556=
ENST00000439274.6:c.1830C>T	ENSP00000398879.2:p.Ile610=
ENST00000440126.7:c.1926C>T	ENSP00000387483.2:p.Ile642=
ENST00000464867.1:n.345C>T
NM_000484.3:c.1998C>T	NP_000475.1:p.Ile666=
NM_001136016.3:c.1926C>T	NP_001129488.1:p.Ile642=
NM_001136129.2:c.1605C>T	NP_001129601.1:p.Ile535=
NM_001136130.2:c.1830C>T	NP_001129602.1:p.Ile610=
NM_001136131.2:c.1668C>T	NP_001129603.1:p.Ile556=
NM_001204301.1:c.1944C>T	NP_001191230.1:p.Ile648=
NM_001204302.1:c.1887C>T	NP_001191231.1:p.Ile629=
NM_001204303.1:c.1719C>T	NP_001191232.1:p.Ile573=
NM_201413.2:c.1941C>T	NP_958816.1:p.Ile647=
NM_201414.2:c.1773C>T	NP_958817.1:p.Ile591=
NM_000484.4:c.1998C>T MANE Select	NP_000475.1:p.Ile666=
NM_001136129.3:c.1605C>T	NP_001129601.1:p.Ile535=
NM_001136130.3:c.1830C>T	NP_001129602.1:p.Ile610=
NM_001204301.2:c.1944C>T	NP_001191230.1:p.Ile648=
NM_001204302.2:c.1887C>T	NP_001191231.1:p.Ile629=
NM_001204303.2:c.1719C>T	NP_001191232.1:p.Ile573=
NM_201413.3:c.1941C>T	NP_958816.1:p.Ile647=
NM_201414.3:c.1773C>T	NP_958817.1:p.Ile591=
NM_001136131.3:c.1668C>T	NP_001129603.1:p.Ile556=
NM_001385253.1:c.1830C>T	NP_001372182.1:p.Ile610=