Canonical Allele Identifier: CA409806458

Gene: APP

Linked Data

• dbSNP Id: rs2038162297
• gnomAD v4: 21-25897628-T-C
• MyVariant Identifiers: chr21:g.27269940T>C (hg19) ; chr21:g.25897628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897628T>C , CM000683.2:g.25897628T>C	GRCh38
NC_000021.8:g.27269940T>C , CM000683.1:g.27269940T>C	GRCh37
NC_000021.7:g.26191811T>C	NCBI36
NG_007376.1:g.278193A>G
NG_007376.2:g.278501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1976A>G
ENST00000707133.1:n.406A>G
ENST00000707134.1:n.675A>G
ENST00000346798.8:c.2009A>G MANE Select	ENSP00000284981.4:p.Lys670Arg
ENST00000346798.7:c.2009A>G	ENSP00000284981.4:p.Lys670Arg
ENST00000348990.9:c.1784A>G	ENSP00000345463.5:p.Lys595Arg
ENST00000354192.7:c.1616A>G	ENSP00000346129.3:p.Lys539Arg
ENST00000357903.7:c.1952A>G	ENSP00000350578.3:p.Lys651Arg
ENST00000358918.7:c.1955A>G	ENSP00000351796.3:p.Lys652Arg
ENST00000359726.7:c.1679A>G	ENSP00000352760.4:p.Lys560Arg
ENST00000439274.6:c.1841A>G	ENSP00000398879.2:p.Lys614Arg
ENST00000440126.7:c.1937A>G	ENSP00000387483.2:p.Lys646Arg
ENST00000464867.1:n.356A>G
NM_000484.3:c.2009A>G	NP_000475.1:p.Lys670Arg
NM_001136016.3:c.1937A>G	NP_001129488.1:p.Lys646Arg
NM_001136129.2:c.1616A>G	NP_001129601.1:p.Lys539Arg
NM_001136130.2:c.1841A>G	NP_001129602.1:p.Lys614Arg
NM_001136131.2:c.1679A>G	NP_001129603.1:p.Lys560Arg
NM_001204301.1:c.1955A>G	NP_001191230.1:p.Lys652Arg
NM_001204302.1:c.1898A>G	NP_001191231.1:p.Lys633Arg
NM_001204303.1:c.1730A>G	NP_001191232.1:p.Lys577Arg
NM_201413.2:c.1952A>G	NP_958816.1:p.Lys651Arg
NM_201414.2:c.1784A>G	NP_958817.1:p.Lys595Arg
NM_000484.4:c.2009A>G MANE Select	NP_000475.1:p.Lys670Arg
NM_001136129.3:c.1616A>G	NP_001129601.1:p.Lys539Arg
NM_001136130.3:c.1841A>G	NP_001129602.1:p.Lys614Arg
NM_001204301.2:c.1955A>G	NP_001191230.1:p.Lys652Arg
NM_001204302.2:c.1898A>G	NP_001191231.1:p.Lys633Arg
NM_001204303.2:c.1730A>G	NP_001191232.1:p.Lys577Arg
NM_201413.3:c.1952A>G	NP_958816.1:p.Lys651Arg
NM_201414.3:c.1784A>G	NP_958817.1:p.Lys595Arg
NM_001136131.3:c.1679A>G	NP_001129603.1:p.Lys560Arg
NM_001385253.1:c.1841A>G	NP_001372182.1:p.Lys614Arg