Canonical Allele Identifier: CA409805463

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891745A>C , CM000683.2:g.25891745A>C	GRCh38
NC_000021.8:g.27264057A>C , CM000683.1:g.27264057A>C	GRCh37
NC_000021.7:g.26185928A>C	NCBI36
NG_007376.1:g.284076T>G
NG_007376.2:g.284384T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2188T>G MANE Select	NP_000475.1:p.Ser730Ala
ENST00000346798.8:c.2188T>G MANE Select	ENSP00000284981.4:p.Ser730Ala
NM_000484.3:c.2188T>G	NP_000475.1:p.Ser730Ala
NM_001136016.3:c.2116T>G	NP_001129488.1:p.Ser706Ala
NM_001136129.2:c.1795T>G	NP_001129601.1:p.Ser599Ala
NM_001136129.3:c.1795T>G	NP_001129601.1:p.Ser599Ala
NM_001136130.2:c.2020T>G	NP_001129602.1:p.Ser674Ala
NM_001136130.3:c.2020T>G	NP_001129602.1:p.Ser674Ala
NM_001136131.2:c.1858T>G	NP_001129603.1:p.Ser620Ala
NM_001136131.3:c.1858T>G	NP_001129603.1:p.Ser620Ala
NM_001204301.1:c.2134T>G	NP_001191230.1:p.Ser712Ala
NM_001204301.2:c.2134T>G	NP_001191230.1:p.Ser712Ala
NM_001204302.1:c.2077T>G	NP_001191231.1:p.Ser693Ala
NM_001204302.2:c.2077T>G	NP_001191231.1:p.Ser693Ala
NM_001204303.1:c.1909T>G	NP_001191232.1:p.Ser637Ala
NM_001204303.2:c.1909T>G	NP_001191232.1:p.Ser637Ala
NM_001385253.1:c.2020T>G	NP_001372182.1:p.Ser674Ala
NM_201413.2:c.2131T>G	NP_958816.1:p.Ser711Ala
NM_201413.3:c.2131T>G	NP_958816.1:p.Ser711Ala
NM_201414.2:c.1963T>G	NP_958817.1:p.Ser655Ala
NM_201414.3:c.1963T>G	NP_958817.1:p.Ser655Ala
ENST00000346798.7:c.2188T>G	ENSP00000284981.4:p.Ser730Ala
ENST00000348990.9:c.1963T>G	ENSP00000345463.5:p.Ser655Ala
ENST00000354192.7:c.1795T>G	ENSP00000346129.3:p.Ser599Ala
ENST00000357903.7:c.2131T>G	ENSP00000350578.3:p.Ser711Ala
ENST00000358918.7:c.2134T>G	ENSP00000351796.3:p.Ser712Ala
ENST00000359726.7:c.1858T>G	ENSP00000352760.4:p.Ser620Ala
ENST00000439274.6:c.2020T>G	ENSP00000398879.2:p.Ser674Ala
ENST00000440126.7:c.2116T>G	ENSP00000387483.2:p.Ser706Ala
ENST00000464867.1:n.535T>G
ENST00000707132.1:n.2155T>G
ENST00000707133.1:n.585T>G
ENST00000707134.1:n.854T>G