Canonical Allele Identifier: CA409806416

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269932C>A (hg19) ; chr21:g.25897620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897620C>A , CM000683.2:g.25897620C>A	GRCh38
NC_000021.8:g.27269932C>A , CM000683.1:g.27269932C>A	GRCh37
NC_000021.7:g.26191803C>A	NCBI36
NG_007376.1:g.278201G>T
NG_007376.2:g.278509G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1984G>T
ENST00000707133.1:n.414G>T
ENST00000707134.1:n.683G>T
ENST00000346798.8:c.2017G>T MANE Select	ENSP00000284981.4:p.Ala673Ser
ENST00000346798.7:c.2017G>T	ENSP00000284981.4:p.Ala673Ser
ENST00000348990.9:c.1792G>T	ENSP00000345463.5:p.Ala598Ser
ENST00000354192.7:c.1624G>T	ENSP00000346129.3:p.Ala542Ser
ENST00000357903.7:c.1960G>T	ENSP00000350578.3:p.Ala654Ser
ENST00000358918.7:c.1963G>T	ENSP00000351796.3:p.Ala655Ser
ENST00000359726.7:c.1687G>T	ENSP00000352760.4:p.Ala563Ser
ENST00000439274.6:c.1849G>T	ENSP00000398879.2:p.Ala617Ser
ENST00000440126.7:c.1945G>T	ENSP00000387483.2:p.Ala649Ser
ENST00000464867.1:n.364G>T
NM_000484.3:c.2017G>T	NP_000475.1:p.Ala673Ser
NM_001136016.3:c.1945G>T	NP_001129488.1:p.Ala649Ser
NM_001136129.2:c.1624G>T	NP_001129601.1:p.Ala542Ser
NM_001136130.2:c.1849G>T	NP_001129602.1:p.Ala617Ser
NM_001136131.2:c.1687G>T	NP_001129603.1:p.Ala563Ser
NM_001204301.1:c.1963G>T	NP_001191230.1:p.Ala655Ser
NM_001204302.1:c.1906G>T	NP_001191231.1:p.Ala636Ser
NM_001204303.1:c.1738G>T	NP_001191232.1:p.Ala580Ser
NM_201413.2:c.1960G>T	NP_958816.1:p.Ala654Ser
NM_201414.2:c.1792G>T	NP_958817.1:p.Ala598Ser
NM_000484.4:c.2017G>T MANE Select	NP_000475.1:p.Ala673Ser
NM_001136129.3:c.1624G>T	NP_001129601.1:p.Ala542Ser
NM_001136130.3:c.1849G>T	NP_001129602.1:p.Ala617Ser
NM_001204301.2:c.1963G>T	NP_001191230.1:p.Ala655Ser
NM_001204302.2:c.1906G>T	NP_001191231.1:p.Ala636Ser
NM_001204303.2:c.1738G>T	NP_001191232.1:p.Ala580Ser
NM_201413.3:c.1960G>T	NP_958816.1:p.Ala654Ser
NM_201414.3:c.1792G>T	NP_958817.1:p.Ala598Ser
NM_001136131.3:c.1687G>T	NP_001129603.1:p.Ala563Ser
NM_001385253.1:c.1849G>T	NP_001372182.1:p.Ala617Ser