Canonical Allele Identifier: CA409805675

Gene: APP

Linked Data

• dbSNP Id: rs1315025573
• gnomAD v2: 21-27264161-A-G
• gnomAD v3: 21-25891849-A-G
• gnomAD v4: 21-25891849-A-G
• MyVariant Identifiers: chr21:g.27264161A>G (hg19) ; chr21:g.25891849A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2051T>C
ENST00000707133.1:n.481T>C
ENST00000707134.1:n.750T>C
ENST00000346798.8:c.2084T>C MANE Select	ENSP00000284981.4:p.Val695Ala
ENST00000346798.7:c.2084T>C	ENSP00000284981.4:p.Val695Ala
ENST00000348990.9:c.1859T>C	ENSP00000345463.5:p.Val620Ala
ENST00000354192.7:c.1691T>C	ENSP00000346129.3:p.Val564Ala
ENST00000357903.7:c.2027T>C	ENSP00000350578.3:p.Val676Ala
ENST00000358918.7:c.2030T>C	ENSP00000351796.3:p.Val677Ala
ENST00000359726.7:c.1754T>C	ENSP00000352760.4:p.Val585Ala
ENST00000439274.6:c.1916T>C	ENSP00000398879.2:p.Val639Ala
ENST00000440126.7:c.2012T>C	ENSP00000387483.2:p.Val671Ala
ENST00000464867.1:n.431T>C
NM_000484.3:c.2084T>C	NP_000475.1:p.Val695Ala
NM_001136016.3:c.2012T>C	NP_001129488.1:p.Val671Ala
NM_001136129.2:c.1691T>C	NP_001129601.1:p.Val564Ala
NM_001136130.2:c.1916T>C	NP_001129602.1:p.Val639Ala
NM_001136131.2:c.1754T>C	NP_001129603.1:p.Val585Ala
NM_001204301.1:c.2030T>C	NP_001191230.1:p.Val677Ala
NM_001204302.1:c.1973T>C	NP_001191231.1:p.Val658Ala
NM_001204303.1:c.1805T>C	NP_001191232.1:p.Val602Ala
NM_201413.2:c.2027T>C	NP_958816.1:p.Val676Ala
NM_201414.2:c.1859T>C	NP_958817.1:p.Val620Ala
NM_000484.4:c.2084T>C MANE Select	NP_000475.1:p.Val695Ala
NM_001136129.3:c.1691T>C	NP_001129601.1:p.Val564Ala
NM_001136130.3:c.1916T>C	NP_001129602.1:p.Val639Ala
NM_001204301.2:c.2030T>C	NP_001191230.1:p.Val677Ala
NM_001204302.2:c.1973T>C	NP_001191231.1:p.Val658Ala
NM_001204303.2:c.1805T>C	NP_001191232.1:p.Val602Ala
NM_201413.3:c.2027T>C	NP_958816.1:p.Val676Ala
NM_201414.3:c.1859T>C	NP_958817.1:p.Val620Ala
NM_001136131.3:c.1754T>C	NP_001129603.1:p.Val585Ala
NM_001385253.1:c.1916T>C	NP_001372182.1:p.Val639Ala