Canonical Allele Identifier: CA409806486

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269947C>G (hg19) ; chr21:g.25897635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897635C>G , CM000683.2:g.25897635C>G	GRCh38
NC_000021.8:g.27269947C>G , CM000683.1:g.27269947C>G	GRCh37
NC_000021.7:g.26191818C>G	NCBI36
NG_007376.1:g.278186G>C
NG_007376.2:g.278494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1969G>C
ENST00000707133.1:n.399G>C
ENST00000707134.1:n.668G>C
ENST00000346798.8:c.2002G>C MANE Select	ENSP00000284981.4:p.Glu668Gln
ENST00000346798.7:c.2002G>C	ENSP00000284981.4:p.Glu668Gln
ENST00000348990.9:c.1777G>C	ENSP00000345463.5:p.Glu593Gln
ENST00000354192.7:c.1609G>C	ENSP00000346129.3:p.Glu537Gln
ENST00000357903.7:c.1945G>C	ENSP00000350578.3:p.Glu649Gln
ENST00000358918.7:c.1948G>C	ENSP00000351796.3:p.Glu650Gln
ENST00000359726.7:c.1672G>C	ENSP00000352760.4:p.Glu558Gln
ENST00000439274.6:c.1834G>C	ENSP00000398879.2:p.Glu612Gln
ENST00000440126.7:c.1930G>C	ENSP00000387483.2:p.Glu644Gln
ENST00000464867.1:n.349G>C
NM_000484.3:c.2002G>C	NP_000475.1:p.Glu668Gln
NM_001136016.3:c.1930G>C	NP_001129488.1:p.Glu644Gln
NM_001136129.2:c.1609G>C	NP_001129601.1:p.Glu537Gln
NM_001136130.2:c.1834G>C	NP_001129602.1:p.Glu612Gln
NM_001136131.2:c.1672G>C	NP_001129603.1:p.Glu558Gln
NM_001204301.1:c.1948G>C	NP_001191230.1:p.Glu650Gln
NM_001204302.1:c.1891G>C	NP_001191231.1:p.Glu631Gln
NM_001204303.1:c.1723G>C	NP_001191232.1:p.Glu575Gln
NM_201413.2:c.1945G>C	NP_958816.1:p.Glu649Gln
NM_201414.2:c.1777G>C	NP_958817.1:p.Glu593Gln
NM_000484.4:c.2002G>C MANE Select	NP_000475.1:p.Glu668Gln
NM_001136129.3:c.1609G>C	NP_001129601.1:p.Glu537Gln
NM_001136130.3:c.1834G>C	NP_001129602.1:p.Glu612Gln
NM_001204301.2:c.1948G>C	NP_001191230.1:p.Glu650Gln
NM_001204302.2:c.1891G>C	NP_001191231.1:p.Glu631Gln
NM_001204303.2:c.1723G>C	NP_001191232.1:p.Glu575Gln
NM_201413.3:c.1945G>C	NP_958816.1:p.Glu649Gln
NM_201414.3:c.1777G>C	NP_958817.1:p.Glu593Gln
NM_001136131.3:c.1672G>C	NP_001129603.1:p.Glu558Gln
NM_001385253.1:c.1834G>C	NP_001372182.1:p.Glu612Gln