Canonical Allele Identifier: CA409806268

Gene: APP

Linked Data

• COSMIC: COSM1029637
• MyVariant Identifiers: chr21:g.27269897A>T (hg19) ; chr21:g.25897585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897585A>T , CM000683.2:g.25897585A>T	GRCh38
NC_000021.8:g.27269897A>T , CM000683.1:g.27269897A>T	GRCh37
NC_000021.7:g.26191768A>T	NCBI36
NG_007376.1:g.278236T>A
NG_007376.2:g.278544T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2019T>A
ENST00000707133.1:n.449T>A
ENST00000707134.1:n.718T>A
ENST00000346798.8:c.2052T>A MANE Select	ENSP00000284981.4:p.His684Gln
ENST00000346798.7:c.2052T>A	ENSP00000284981.4:p.His684Gln
ENST00000348990.9:c.1827T>A	ENSP00000345463.5:p.His609Gln
ENST00000354192.7:c.1659T>A	ENSP00000346129.3:p.His553Gln
ENST00000357903.7:c.1995T>A	ENSP00000350578.3:p.His665Gln
ENST00000358918.7:c.1998T>A	ENSP00000351796.3:p.His666Gln
ENST00000359726.7:c.1722T>A	ENSP00000352760.4:p.His574Gln
ENST00000439274.6:c.1884T>A	ENSP00000398879.2:p.His628Gln
ENST00000440126.7:c.1980T>A	ENSP00000387483.2:p.His660Gln
ENST00000464867.1:n.399T>A
NM_000484.3:c.2052T>A	NP_000475.1:p.His684Gln
NM_001136016.3:c.1980T>A	NP_001129488.1:p.His660Gln
NM_001136129.2:c.1659T>A	NP_001129601.1:p.His553Gln
NM_001136130.2:c.1884T>A	NP_001129602.1:p.His628Gln
NM_001136131.2:c.1722T>A	NP_001129603.1:p.His574Gln
NM_001204301.1:c.1998T>A	NP_001191230.1:p.His666Gln
NM_001204302.1:c.1941T>A	NP_001191231.1:p.His647Gln
NM_001204303.1:c.1773T>A	NP_001191232.1:p.His591Gln
NM_201413.2:c.1995T>A	NP_958816.1:p.His665Gln
NM_201414.2:c.1827T>A	NP_958817.1:p.His609Gln
NM_000484.4:c.2052T>A MANE Select	NP_000475.1:p.His684Gln
NM_001136129.3:c.1659T>A	NP_001129601.1:p.His553Gln
NM_001136130.3:c.1884T>A	NP_001129602.1:p.His628Gln
NM_001204301.2:c.1998T>A	NP_001191230.1:p.His666Gln
NM_001204302.2:c.1941T>A	NP_001191231.1:p.His647Gln
NM_001204303.2:c.1773T>A	NP_001191232.1:p.His591Gln
NM_201413.3:c.1995T>A	NP_958816.1:p.His665Gln
NM_201414.3:c.1827T>A	NP_958817.1:p.His609Gln
NM_001136131.3:c.1722T>A	NP_001129603.1:p.His574Gln
NM_001385253.1:c.1884T>A	NP_001372182.1:p.His628Gln