Canonical Allele Identifier: CA511686259
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269948A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897636A>C , CM000683.2:g.25897636A>C GRCh38
NC_000021.8:g.27269948A>C , CM000683.1:g.27269948A>C GRCh37
NC_000021.7:g.26191819A>C NCBI36
NG_007376.1:g.278185T>G
NG_007376.2:g.278493T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.1968T>G
ENST00000707133.1:n.398T>G
ENST00000707134.1:n.667T>G
ENST00000346798.8:c.2001T>G MANE Select ENSP00000284981.4:p.Ser667=
ENST00000346798.7:c.2001T>G ENSP00000284981.4:p.Ser667=
ENST00000348990.9:c.1776T>G ENSP00000345463.5:p.Ser592=
ENST00000354192.7:c.1608T>G ENSP00000346129.3:p.Ser536=
ENST00000357903.7:c.1944T>G ENSP00000350578.3:p.Ser648=
ENST00000358918.7:c.1947T>G ENSP00000351796.3:p.Ser649=
ENST00000359726.7:c.1671T>G ENSP00000352760.4:p.Ser557=
ENST00000439274.6:c.1833T>G ENSP00000398879.2:p.Ser611=
ENST00000440126.7:c.1929T>G ENSP00000387483.2:p.Ser643=
ENST00000464867.1:n.348T>G
NM_000484.3:c.2001T>G NP_000475.1:p.Ser667=
NM_001136016.3:c.1929T>G NP_001129488.1:p.Ser643=
NM_001136129.2:c.1608T>G NP_001129601.1:p.Ser536=
NM_001136130.2:c.1833T>G NP_001129602.1:p.Ser611=
NM_001136131.2:c.1671T>G NP_001129603.1:p.Ser557=
NM_001204301.1:c.1947T>G NP_001191230.1:p.Ser649=
NM_001204302.1:c.1890T>G NP_001191231.1:p.Ser630=
NM_001204303.1:c.1722T>G NP_001191232.1:p.Ser574=
NM_201413.2:c.1944T>G NP_958816.1:p.Ser648=
NM_201414.2:c.1776T>G NP_958817.1:p.Ser592=
NM_000484.4:c.2001T>G MANE Select NP_000475.1:p.Ser667=
NM_001136129.3:c.1608T>G NP_001129601.1:p.Ser536=
NM_001136130.3:c.1833T>G NP_001129602.1:p.Ser611=
NM_001204301.2:c.1947T>G NP_001191230.1:p.Ser649=
NM_001204302.2:c.1890T>G NP_001191231.1:p.Ser630=
NM_001204303.2:c.1722T>G NP_001191232.1:p.Ser574=
NM_201413.3:c.1944T>G NP_958816.1:p.Ser648=
NM_201414.3:c.1776T>G NP_958817.1:p.Ser592=
NM_001136131.3:c.1671T>G NP_001129603.1:p.Ser557=
NM_001385253.1:c.1833T>G NP_001372182.1:p.Ser611=