Canonical Allele Identifier: CA511686261
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs2038163314
MyVariant Identifiers: chr21:g.27269948A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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