Canonical Allele Identifier: CA409806357

Gene: APP

Linked Data

• ClinVar Variation Id: 446855
• ClinVar RCV Id: RCV000516562
• dbSNP Id: rs63750064
• MyVariant Identifiers: chr21:g.27269917C>G (hg19) ; chr21:g.25897605C>G (hg38)
• PubMed: PMID:22558227 ; PMID:23931937 ; PMID:25053581 ; PMID:25137638 ; PMID:26225732 ; PMID:26282939

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897605C>G , CM000683.2:g.25897605C>G	GRCh38
NC_000021.8:g.27269917C>G , CM000683.1:g.27269917C>G	GRCh37
NC_000021.7:g.26191788C>G	NCBI36
NG_007376.1:g.278216G>C
NG_007376.2:g.278524G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1999G>C
ENST00000707133.1:n.429G>C
ENST00000707134.1:n.698G>C
ENST00000346798.8:c.2032G>C MANE Select	ENSP00000284981.4:p.Asp678His
ENST00000346798.7:c.2032G>C	ENSP00000284981.4:p.Asp678His
ENST00000348990.9:c.1807G>C	ENSP00000345463.5:p.Asp603His
ENST00000354192.7:c.1639G>C	ENSP00000346129.3:p.Asp547His
ENST00000357903.7:c.1975G>C	ENSP00000350578.3:p.Asp659His
ENST00000358918.7:c.1978G>C	ENSP00000351796.3:p.Asp660His
ENST00000359726.7:c.1702G>C	ENSP00000352760.4:p.Asp568His
ENST00000439274.6:c.1864G>C	ENSP00000398879.2:p.Asp622His
ENST00000440126.7:c.1960G>C	ENSP00000387483.2:p.Asp654His
ENST00000464867.1:n.379G>C
NM_000484.3:c.2032G>C	NP_000475.1:p.Asp678His
NM_001136016.3:c.1960G>C	NP_001129488.1:p.Asp654His
NM_001136129.2:c.1639G>C	NP_001129601.1:p.Asp547His
NM_001136130.2:c.1864G>C	NP_001129602.1:p.Asp622His
NM_001136131.2:c.1702G>C	NP_001129603.1:p.Asp568His
NM_001204301.1:c.1978G>C	NP_001191230.1:p.Asp660His
NM_001204302.1:c.1921G>C	NP_001191231.1:p.Asp641His
NM_001204303.1:c.1753G>C	NP_001191232.1:p.Asp585His
NM_201413.2:c.1975G>C	NP_958816.1:p.Asp659His
NM_201414.2:c.1807G>C	NP_958817.1:p.Asp603His
NM_000484.4:c.2032G>C MANE Select	NP_000475.1:p.Asp678His
NM_001136129.3:c.1639G>C	NP_001129601.1:p.Asp547His
NM_001136130.3:c.1864G>C	NP_001129602.1:p.Asp622His
NM_001204301.2:c.1978G>C	NP_001191230.1:p.Asp660His
NM_001204302.2:c.1921G>C	NP_001191231.1:p.Asp641His
NM_001204303.2:c.1753G>C	NP_001191232.1:p.Asp585His
NM_201413.3:c.1975G>C	NP_958816.1:p.Asp659His
NM_201414.3:c.1807G>C	NP_958817.1:p.Asp603His
NM_001136131.3:c.1702G>C	NP_001129603.1:p.Asp568His
NM_001385253.1:c.1864G>C	NP_001372182.1:p.Asp622His