Canonical Allele Identifier: CA9987088

Gene: APP

Linked Data

• dbSNP Id: rs773165294
• ExAC: 21:27269900 A / T
• gnomAD v2: 21-27269900-A-T
• gnomAD v3: 21-25897588-A-T
• gnomAD v4: 21-25897588-A-T
• MyVariant Identifiers: chr21:g.27269900A>T (hg19) ; chr21:g.25897588A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897588A>T , CM000683.2:g.25897588A>T	GRCh38
NC_000021.8:g.27269900A>T , CM000683.1:g.27269900A>T	GRCh37
NC_000021.7:g.26191771A>T	NCBI36
NG_007376.1:g.278233T>A
NG_007376.2:g.278541T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2016T>A
ENST00000707133.1:n.446T>A
ENST00000707134.1:n.715T>A
ENST00000346798.8:c.2049T>A MANE Select	ENSP00000284981.4:p.Val683=
ENST00000346798.7:c.2049T>A	ENSP00000284981.4:p.Val683=
ENST00000348990.9:c.1824T>A	ENSP00000345463.5:p.Val608=
ENST00000354192.7:c.1656T>A	ENSP00000346129.3:p.Val552=
ENST00000357903.7:c.1992T>A	ENSP00000350578.3:p.Val664=
ENST00000358918.7:c.1995T>A	ENSP00000351796.3:p.Val665=
ENST00000359726.7:c.1719T>A	ENSP00000352760.4:p.Val573=
ENST00000439274.6:c.1881T>A	ENSP00000398879.2:p.Val627=
ENST00000440126.7:c.1977T>A	ENSP00000387483.2:p.Val659=
ENST00000464867.1:n.396T>A
NM_000484.3:c.2049T>A	NP_000475.1:p.Val683=
NM_001136016.3:c.1977T>A	NP_001129488.1:p.Val659=
NM_001136129.2:c.1656T>A	NP_001129601.1:p.Val552=
NM_001136130.2:c.1881T>A	NP_001129602.1:p.Val627=
NM_001136131.2:c.1719T>A	NP_001129603.1:p.Val573=
NM_001204301.1:c.1995T>A	NP_001191230.1:p.Val665=
NM_001204302.1:c.1938T>A	NP_001191231.1:p.Val646=
NM_001204303.1:c.1770T>A	NP_001191232.1:p.Val590=
NM_201413.2:c.1992T>A	NP_958816.1:p.Val664=
NM_201414.2:c.1824T>A	NP_958817.1:p.Val608=
NM_000484.4:c.2049T>A MANE Select	NP_000475.1:p.Val683=
NM_001136129.3:c.1656T>A	NP_001129601.1:p.Val552=
NM_001136130.3:c.1881T>A	NP_001129602.1:p.Val627=
NM_001204301.2:c.1995T>A	NP_001191230.1:p.Val665=
NM_001204302.2:c.1938T>A	NP_001191231.1:p.Val646=
NM_001204303.2:c.1770T>A	NP_001191232.1:p.Val590=
NM_201413.3:c.1992T>A	NP_958816.1:p.Val664=
NM_201414.3:c.1824T>A	NP_958817.1:p.Val608=
NM_001136131.3:c.1719T>A	NP_001129603.1:p.Val573=
NM_001385253.1:c.1881T>A	NP_001372182.1:p.Val627=