Canonical Allele Identifier: CA9987099

Gene: APP

Linked Data

• dbSNP Id: rs747052680
• ExAC: 21:27269952 A / G
• gnomAD v2: 21-27269952-A-G
• gnomAD v4: 21-25897640-A-G
• MyVariant Identifiers: chr21:g.27269952A>G (hg19) ; chr21:g.25897640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897640A>G , CM000683.2:g.25897640A>G	GRCh38
NC_000021.8:g.27269952A>G , CM000683.1:g.27269952A>G	GRCh37
NC_000021.7:g.26191823A>G	NCBI36
NG_007376.1:g.278181T>C
NG_007376.2:g.278489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1964T>C
ENST00000707133.1:n.394T>C
ENST00000707134.1:n.663T>C
ENST00000346798.8:c.1997T>C MANE Select	ENSP00000284981.4:p.Ile666Thr
ENST00000346798.7:c.1997T>C	ENSP00000284981.4:p.Ile666Thr
ENST00000348990.9:c.1772T>C	ENSP00000345463.5:p.Ile591Thr
ENST00000354192.7:c.1604T>C	ENSP00000346129.3:p.Ile535Thr
ENST00000357903.7:c.1940T>C	ENSP00000350578.3:p.Ile647Thr
ENST00000358918.7:c.1943T>C	ENSP00000351796.3:p.Ile648Thr
ENST00000359726.7:c.1667T>C	ENSP00000352760.4:p.Ile556Thr
ENST00000439274.6:c.1829T>C	ENSP00000398879.2:p.Ile610Thr
ENST00000440126.7:c.1925T>C	ENSP00000387483.2:p.Ile642Thr
ENST00000464867.1:n.344T>C
NM_000484.3:c.1997T>C	NP_000475.1:p.Ile666Thr
NM_001136016.3:c.1925T>C	NP_001129488.1:p.Ile642Thr
NM_001136129.2:c.1604T>C	NP_001129601.1:p.Ile535Thr
NM_001136130.2:c.1829T>C	NP_001129602.1:p.Ile610Thr
NM_001136131.2:c.1667T>C	NP_001129603.1:p.Ile556Thr
NM_001204301.1:c.1943T>C	NP_001191230.1:p.Ile648Thr
NM_001204302.1:c.1886T>C	NP_001191231.1:p.Ile629Thr
NM_001204303.1:c.1718T>C	NP_001191232.1:p.Ile573Thr
NM_201413.2:c.1940T>C	NP_958816.1:p.Ile647Thr
NM_201414.2:c.1772T>C	NP_958817.1:p.Ile591Thr
NM_000484.4:c.1997T>C MANE Select	NP_000475.1:p.Ile666Thr
NM_001136129.3:c.1604T>C	NP_001129601.1:p.Ile535Thr
NM_001136130.3:c.1829T>C	NP_001129602.1:p.Ile610Thr
NM_001204301.2:c.1943T>C	NP_001191230.1:p.Ile648Thr
NM_001204302.2:c.1886T>C	NP_001191231.1:p.Ile629Thr
NM_001204303.2:c.1718T>C	NP_001191232.1:p.Ile573Thr
NM_201413.3:c.1940T>C	NP_958816.1:p.Ile647Thr
NM_201414.3:c.1772T>C	NP_958817.1:p.Ile591Thr
NM_001136131.3:c.1667T>C	NP_001129603.1:p.Ile556Thr
NM_001385253.1:c.1829T>C	NP_001372182.1:p.Ile610Thr