Canonical Allele Identifier: CA409806497

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269950A>C (hg19) ; chr21:g.25897638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897638A>C , CM000683.2:g.25897638A>C	GRCh38
NC_000021.8:g.27269950A>C , CM000683.1:g.27269950A>C	GRCh37
NC_000021.7:g.26191821A>C	NCBI36
NG_007376.1:g.278183T>G
NG_007376.2:g.278491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1966T>G
ENST00000707133.1:n.396T>G
ENST00000707134.1:n.665T>G
ENST00000346798.8:c.1999T>G MANE Select	ENSP00000284981.4:p.Ser667Ala
ENST00000346798.7:c.1999T>G	ENSP00000284981.4:p.Ser667Ala
ENST00000348990.9:c.1774T>G	ENSP00000345463.5:p.Ser592Ala
ENST00000354192.7:c.1606T>G	ENSP00000346129.3:p.Ser536Ala
ENST00000357903.7:c.1942T>G	ENSP00000350578.3:p.Ser648Ala
ENST00000358918.7:c.1945T>G	ENSP00000351796.3:p.Ser649Ala
ENST00000359726.7:c.1669T>G	ENSP00000352760.4:p.Ser557Ala
ENST00000439274.6:c.1831T>G	ENSP00000398879.2:p.Ser611Ala
ENST00000440126.7:c.1927T>G	ENSP00000387483.2:p.Ser643Ala
ENST00000464867.1:n.346T>G
NM_000484.3:c.1999T>G	NP_000475.1:p.Ser667Ala
NM_001136016.3:c.1927T>G	NP_001129488.1:p.Ser643Ala
NM_001136129.2:c.1606T>G	NP_001129601.1:p.Ser536Ala
NM_001136130.2:c.1831T>G	NP_001129602.1:p.Ser611Ala
NM_001136131.2:c.1669T>G	NP_001129603.1:p.Ser557Ala
NM_001204301.1:c.1945T>G	NP_001191230.1:p.Ser649Ala
NM_001204302.1:c.1888T>G	NP_001191231.1:p.Ser630Ala
NM_001204303.1:c.1720T>G	NP_001191232.1:p.Ser574Ala
NM_201413.2:c.1942T>G	NP_958816.1:p.Ser648Ala
NM_201414.2:c.1774T>G	NP_958817.1:p.Ser592Ala
NM_000484.4:c.1999T>G MANE Select	NP_000475.1:p.Ser667Ala
NM_001136129.3:c.1606T>G	NP_001129601.1:p.Ser536Ala
NM_001136130.3:c.1831T>G	NP_001129602.1:p.Ser611Ala
NM_001204301.2:c.1945T>G	NP_001191230.1:p.Ser649Ala
NM_001204302.2:c.1888T>G	NP_001191231.1:p.Ser630Ala
NM_001204303.2:c.1720T>G	NP_001191232.1:p.Ser574Ala
NM_201413.3:c.1942T>G	NP_958816.1:p.Ser648Ala
NM_201414.3:c.1774T>G	NP_958817.1:p.Ser592Ala
NM_001136131.3:c.1669T>G	NP_001129603.1:p.Ser557Ala
NM_001385253.1:c.1831T>G	NP_001372182.1:p.Ser611Ala