Canonical Allele Identifier: CA409806250

Gene: APP

Linked Data

• COSMIC: COSM6467846
• MyVariant Identifiers: chr21:g.27269893G>T (hg19) ; chr21:g.25897581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897581G>T , CM000683.2:g.25897581G>T	GRCh38
NC_000021.8:g.27269893G>T , CM000683.1:g.27269893G>T	GRCh37
NC_000021.7:g.26191764G>T	NCBI36
NG_007376.1:g.278240C>A
NG_007376.2:g.278548C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2023C>A
ENST00000707133.1:n.453C>A
ENST00000707134.1:n.722C>A
ENST00000346798.8:c.2056C>A MANE Select	ENSP00000284981.4:p.Gln686Lys
ENST00000346798.7:c.2056C>A	ENSP00000284981.4:p.Gln686Lys
ENST00000348990.9:c.1831C>A	ENSP00000345463.5:p.Gln611Lys
ENST00000354192.7:c.1663C>A	ENSP00000346129.3:p.Gln555Lys
ENST00000357903.7:c.1999C>A	ENSP00000350578.3:p.Gln667Lys
ENST00000358918.7:c.2002C>A	ENSP00000351796.3:p.Gln668Lys
ENST00000359726.7:c.1726C>A	ENSP00000352760.4:p.Gln576Lys
ENST00000439274.6:c.1888C>A	ENSP00000398879.2:p.Gln630Lys
ENST00000440126.7:c.1984C>A	ENSP00000387483.2:p.Gln662Lys
ENST00000464867.1:n.403C>A
NM_000484.3:c.2056C>A	NP_000475.1:p.Gln686Lys
NM_001136016.3:c.1984C>A	NP_001129488.1:p.Gln662Lys
NM_001136129.2:c.1663C>A	NP_001129601.1:p.Gln555Lys
NM_001136130.2:c.1888C>A	NP_001129602.1:p.Gln630Lys
NM_001136131.2:c.1726C>A	NP_001129603.1:p.Gln576Lys
NM_001204301.1:c.2002C>A	NP_001191230.1:p.Gln668Lys
NM_001204302.1:c.1945C>A	NP_001191231.1:p.Gln649Lys
NM_001204303.1:c.1777C>A	NP_001191232.1:p.Gln593Lys
NM_201413.2:c.1999C>A	NP_958816.1:p.Gln667Lys
NM_201414.2:c.1831C>A	NP_958817.1:p.Gln611Lys
NM_000484.4:c.2056C>A MANE Select	NP_000475.1:p.Gln686Lys
NM_001136129.3:c.1663C>A	NP_001129601.1:p.Gln555Lys
NM_001136130.3:c.1888C>A	NP_001129602.1:p.Gln630Lys
NM_001204301.2:c.2002C>A	NP_001191230.1:p.Gln668Lys
NM_001204302.2:c.1945C>A	NP_001191231.1:p.Gln649Lys
NM_001204303.2:c.1777C>A	NP_001191232.1:p.Gln593Lys
NM_201413.3:c.1999C>A	NP_958816.1:p.Gln667Lys
NM_201414.3:c.1831C>A	NP_958817.1:p.Gln611Lys
NM_001136131.3:c.1726C>A	NP_001129603.1:p.Gln576Lys
NM_001385253.1:c.1888C>A	NP_001372182.1:p.Gln630Lys