Canonical Allele Identifier: CA409805622

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264137A>C (hg19) ; chr21:g.25891825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891825A>C , CM000683.2:g.25891825A>C	GRCh38
NC_000021.8:g.27264137A>C , CM000683.1:g.27264137A>C	GRCh37
NC_000021.7:g.26186008A>C	NCBI36
NG_007376.1:g.283996T>G
NG_007376.2:g.284304T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2075T>G
ENST00000707133.1:n.505T>G
ENST00000707134.1:n.774T>G
ENST00000346798.8:c.2108T>G MANE Select	ENSP00000284981.4:p.Ile703Ser
ENST00000346798.7:c.2108T>G	ENSP00000284981.4:p.Ile703Ser
ENST00000348990.9:c.1883T>G	ENSP00000345463.5:p.Ile628Ser
ENST00000354192.7:c.1715T>G	ENSP00000346129.3:p.Ile572Ser
ENST00000357903.7:c.2051T>G	ENSP00000350578.3:p.Ile684Ser
ENST00000358918.7:c.2054T>G	ENSP00000351796.3:p.Ile685Ser
ENST00000359726.7:c.1778T>G	ENSP00000352760.4:p.Ile593Ser
ENST00000439274.6:c.1940T>G	ENSP00000398879.2:p.Ile647Ser
ENST00000440126.7:c.2036T>G	ENSP00000387483.2:p.Ile679Ser
ENST00000464867.1:n.455T>G
NM_000484.3:c.2108T>G	NP_000475.1:p.Ile703Ser
NM_001136016.3:c.2036T>G	NP_001129488.1:p.Ile679Ser
NM_001136129.2:c.1715T>G	NP_001129601.1:p.Ile572Ser
NM_001136130.2:c.1940T>G	NP_001129602.1:p.Ile647Ser
NM_001136131.2:c.1778T>G	NP_001129603.1:p.Ile593Ser
NM_001204301.1:c.2054T>G	NP_001191230.1:p.Ile685Ser
NM_001204302.1:c.1997T>G	NP_001191231.1:p.Ile666Ser
NM_001204303.1:c.1829T>G	NP_001191232.1:p.Ile610Ser
NM_201413.2:c.2051T>G	NP_958816.1:p.Ile684Ser
NM_201414.2:c.1883T>G	NP_958817.1:p.Ile628Ser
NM_000484.4:c.2108T>G MANE Select	NP_000475.1:p.Ile703Ser
NM_001136129.3:c.1715T>G	NP_001129601.1:p.Ile572Ser
NM_001136130.3:c.1940T>G	NP_001129602.1:p.Ile647Ser
NM_001204301.2:c.2054T>G	NP_001191230.1:p.Ile685Ser
NM_001204302.2:c.1997T>G	NP_001191231.1:p.Ile666Ser
NM_001204303.2:c.1829T>G	NP_001191232.1:p.Ile610Ser
NM_201413.3:c.2051T>G	NP_958816.1:p.Ile684Ser
NM_201414.3:c.1883T>G	NP_958817.1:p.Ile628Ser
NM_001136131.3:c.1778T>G	NP_001129603.1:p.Ile593Ser
NM_001385253.1:c.1940T>G	NP_001372182.1:p.Ile647Ser