Canonical Allele Identifier: CA511686028
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264142T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891830T>C , CM000683.2:g.25891830T>C GRCh38
NC_000021.8:g.27264142T>C , CM000683.1:g.27264142T>C GRCh37
NC_000021.7:g.26186013T>C NCBI36
NG_007376.1:g.283991A>G
NG_007376.2:g.284299A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2070A>G
ENST00000707133.1:n.500A>G
ENST00000707134.1:n.769A>G
ENST00000346798.8:c.2103A>G MANE Select ENSP00000284981.4:p.Ala701=
ENST00000346798.7:c.2103A>G ENSP00000284981.4:p.Ala701=
ENST00000348990.9:c.1878A>G ENSP00000345463.5:p.Ala626=
ENST00000354192.7:c.1710A>G ENSP00000346129.3:p.Ala570=
ENST00000357903.7:c.2046A>G ENSP00000350578.3:p.Ala682=
ENST00000358918.7:c.2049A>G ENSP00000351796.3:p.Ala683=
ENST00000359726.7:c.1773A>G ENSP00000352760.4:p.Ala591=
ENST00000439274.6:c.1935A>G ENSP00000398879.2:p.Ala645=
ENST00000440126.7:c.2031A>G ENSP00000387483.2:p.Ala677=
ENST00000464867.1:n.450A>G
NM_000484.3:c.2103A>G NP_000475.1:p.Ala701=
NM_001136016.3:c.2031A>G NP_001129488.1:p.Ala677=
NM_001136129.2:c.1710A>G NP_001129601.1:p.Ala570=
NM_001136130.2:c.1935A>G NP_001129602.1:p.Ala645=
NM_001136131.2:c.1773A>G NP_001129603.1:p.Ala591=
NM_001204301.1:c.2049A>G NP_001191230.1:p.Ala683=
NM_001204302.1:c.1992A>G NP_001191231.1:p.Ala664=
NM_001204303.1:c.1824A>G NP_001191232.1:p.Ala608=
NM_201413.2:c.2046A>G NP_958816.1:p.Ala682=
NM_201414.2:c.1878A>G NP_958817.1:p.Ala626=
NM_000484.4:c.2103A>G MANE Select NP_000475.1:p.Ala701=
NM_001136129.3:c.1710A>G NP_001129601.1:p.Ala570=
NM_001136130.3:c.1935A>G NP_001129602.1:p.Ala645=
NM_001204301.2:c.2049A>G NP_001191230.1:p.Ala683=
NM_001204302.2:c.1992A>G NP_001191231.1:p.Ala664=
NM_001204303.2:c.1824A>G NP_001191232.1:p.Ala608=
NM_201413.3:c.2046A>G NP_958816.1:p.Ala682=
NM_201414.3:c.1878A>G NP_958817.1:p.Ala626=
NM_001136131.3:c.1773A>G NP_001129603.1:p.Ala591=
NM_001385253.1:c.1935A>G NP_001372182.1:p.Ala645=