Canonical Allele Identifier: CA409806490

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269949G>A (hg19) ; chr21:g.25897637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897637G>A , CM000683.2:g.25897637G>A	GRCh38
NC_000021.8:g.27269949G>A , CM000683.1:g.27269949G>A	GRCh37
NC_000021.7:g.26191820G>A	NCBI36
NG_007376.1:g.278184C>T
NG_007376.2:g.278492C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1967C>T
ENST00000707133.1:n.397C>T
ENST00000707134.1:n.666C>T
ENST00000346798.8:c.2000C>T MANE Select	ENSP00000284981.4:p.Ser667Phe
ENST00000346798.7:c.2000C>T	ENSP00000284981.4:p.Ser667Phe
ENST00000348990.9:c.1775C>T	ENSP00000345463.5:p.Ser592Phe
ENST00000354192.7:c.1607C>T	ENSP00000346129.3:p.Ser536Phe
ENST00000357903.7:c.1943C>T	ENSP00000350578.3:p.Ser648Phe
ENST00000358918.7:c.1946C>T	ENSP00000351796.3:p.Ser649Phe
ENST00000359726.7:c.1670C>T	ENSP00000352760.4:p.Ser557Phe
ENST00000439274.6:c.1832C>T	ENSP00000398879.2:p.Ser611Phe
ENST00000440126.7:c.1928C>T	ENSP00000387483.2:p.Ser643Phe
ENST00000464867.1:n.347C>T
NM_000484.3:c.2000C>T	NP_000475.1:p.Ser667Phe
NM_001136016.3:c.1928C>T	NP_001129488.1:p.Ser643Phe
NM_001136129.2:c.1607C>T	NP_001129601.1:p.Ser536Phe
NM_001136130.2:c.1832C>T	NP_001129602.1:p.Ser611Phe
NM_001136131.2:c.1670C>T	NP_001129603.1:p.Ser557Phe
NM_001204301.1:c.1946C>T	NP_001191230.1:p.Ser649Phe
NM_001204302.1:c.1889C>T	NP_001191231.1:p.Ser630Phe
NM_001204303.1:c.1721C>T	NP_001191232.1:p.Ser574Phe
NM_201413.2:c.1943C>T	NP_958816.1:p.Ser648Phe
NM_201414.2:c.1775C>T	NP_958817.1:p.Ser592Phe
NM_000484.4:c.2000C>T MANE Select	NP_000475.1:p.Ser667Phe
NM_001136129.3:c.1607C>T	NP_001129601.1:p.Ser536Phe
NM_001136130.3:c.1832C>T	NP_001129602.1:p.Ser611Phe
NM_001204301.2:c.1946C>T	NP_001191230.1:p.Ser649Phe
NM_001204302.2:c.1889C>T	NP_001191231.1:p.Ser630Phe
NM_001204303.2:c.1721C>T	NP_001191232.1:p.Ser574Phe
NM_201413.3:c.1943C>T	NP_958816.1:p.Ser648Phe
NM_201414.3:c.1775C>T	NP_958817.1:p.Ser592Phe
NM_001136131.3:c.1670C>T	NP_001129603.1:p.Ser557Phe
NM_001385253.1:c.1832C>T	NP_001372182.1:p.Ser611Phe