Canonical Allele Identifier: CA409805673

Gene: APP

Linked Data

• dbSNP Id: rs1315025573
• gnomAD v2: 21-27264161-A-C
• MyVariant Identifiers: chr21:g.27264161A>C (hg19) ; chr21:g.25891849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891849A>C , CM000683.2:g.25891849A>C	GRCh38
NC_000021.8:g.27264161A>C , CM000683.1:g.27264161A>C	GRCh37
NC_000021.7:g.26186032A>C	NCBI36
NG_007376.1:g.283972T>G
NG_007376.2:g.284280T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2051T>G
ENST00000707133.1:n.481T>G
ENST00000707134.1:n.750T>G
ENST00000346798.8:c.2084T>G MANE Select	ENSP00000284981.4:p.Val695Gly
ENST00000346798.7:c.2084T>G	ENSP00000284981.4:p.Val695Gly
ENST00000348990.9:c.1859T>G	ENSP00000345463.5:p.Val620Gly
ENST00000354192.7:c.1691T>G	ENSP00000346129.3:p.Val564Gly
ENST00000357903.7:c.2027T>G	ENSP00000350578.3:p.Val676Gly
ENST00000358918.7:c.2030T>G	ENSP00000351796.3:p.Val677Gly
ENST00000359726.7:c.1754T>G	ENSP00000352760.4:p.Val585Gly
ENST00000439274.6:c.1916T>G	ENSP00000398879.2:p.Val639Gly
ENST00000440126.7:c.2012T>G	ENSP00000387483.2:p.Val671Gly
ENST00000464867.1:n.431T>G
NM_000484.3:c.2084T>G	NP_000475.1:p.Val695Gly
NM_001136016.3:c.2012T>G	NP_001129488.1:p.Val671Gly
NM_001136129.2:c.1691T>G	NP_001129601.1:p.Val564Gly
NM_001136130.2:c.1916T>G	NP_001129602.1:p.Val639Gly
NM_001136131.2:c.1754T>G	NP_001129603.1:p.Val585Gly
NM_001204301.1:c.2030T>G	NP_001191230.1:p.Val677Gly
NM_001204302.1:c.1973T>G	NP_001191231.1:p.Val658Gly
NM_001204303.1:c.1805T>G	NP_001191232.1:p.Val602Gly
NM_201413.2:c.2027T>G	NP_958816.1:p.Val676Gly
NM_201414.2:c.1859T>G	NP_958817.1:p.Val620Gly
NM_000484.4:c.2084T>G MANE Select	NP_000475.1:p.Val695Gly
NM_001136129.3:c.1691T>G	NP_001129601.1:p.Val564Gly
NM_001136130.3:c.1916T>G	NP_001129602.1:p.Val639Gly
NM_001204301.2:c.2030T>G	NP_001191230.1:p.Val677Gly
NM_001204302.2:c.1973T>G	NP_001191231.1:p.Val658Gly
NM_001204303.2:c.1805T>G	NP_001191232.1:p.Val602Gly
NM_201413.3:c.2027T>G	NP_958816.1:p.Val676Gly
NM_201414.3:c.1859T>G	NP_958817.1:p.Val620Gly
NM_001136131.3:c.1754T>G	NP_001129603.1:p.Val585Gly
NM_001385253.1:c.1916T>G	NP_001372182.1:p.Val639Gly