Canonical Allele Identifier: CA511685978

Gene: APP

Linked Data

• gnomAD v4: 21-25891764-C-G
• MyVariant Identifiers: chr21:g.27264076C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891764C>G , CM000683.2:g.25891764C>G	GRCh38
NC_000021.8:g.27264076C>G , CM000683.1:g.27264076C>G	GRCh37
NC_000021.7:g.26185947C>G	NCBI36
NG_007376.1:g.284057G>C
NG_007376.2:g.284365G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2136G>C
ENST00000707133.1:n.566G>C
ENST00000707134.1:n.835G>C
ENST00000346798.8:c.2169G>C MANE Select	ENSP00000284981.4:p.Leu723=
ENST00000346798.7:c.2169G>C	ENSP00000284981.4:p.Leu723=
ENST00000348990.9:c.1944G>C	ENSP00000345463.5:p.Leu648=
ENST00000354192.7:c.1776G>C	ENSP00000346129.3:p.Leu592=
ENST00000357903.7:c.2112G>C	ENSP00000350578.3:p.Leu704=
ENST00000358918.7:c.2115G>C	ENSP00000351796.3:p.Leu705=
ENST00000359726.7:c.1839G>C	ENSP00000352760.4:p.Leu613=
ENST00000439274.6:c.2001G>C	ENSP00000398879.2:p.Leu667=
ENST00000440126.7:c.2097G>C	ENSP00000387483.2:p.Leu699=
ENST00000464867.1:n.516G>C
NM_000484.3:c.2169G>C	NP_000475.1:p.Leu723=
NM_001136016.3:c.2097G>C	NP_001129488.1:p.Leu699=
NM_001136129.2:c.1776G>C	NP_001129601.1:p.Leu592=
NM_001136130.2:c.2001G>C	NP_001129602.1:p.Leu667=
NM_001136131.2:c.1839G>C	NP_001129603.1:p.Leu613=
NM_001204301.1:c.2115G>C	NP_001191230.1:p.Leu705=
NM_001204302.1:c.2058G>C	NP_001191231.1:p.Leu686=
NM_001204303.1:c.1890G>C	NP_001191232.1:p.Leu630=
NM_201413.2:c.2112G>C	NP_958816.1:p.Leu704=
NM_201414.2:c.1944G>C	NP_958817.1:p.Leu648=
NM_000484.4:c.2169G>C MANE Select	NP_000475.1:p.Leu723=
NM_001136129.3:c.1776G>C	NP_001129601.1:p.Leu592=
NM_001136130.3:c.2001G>C	NP_001129602.1:p.Leu667=
NM_001204301.2:c.2115G>C	NP_001191230.1:p.Leu705=
NM_001204302.2:c.2058G>C	NP_001191231.1:p.Leu686=
NM_001204303.2:c.1890G>C	NP_001191232.1:p.Leu630=
NM_201413.3:c.2112G>C	NP_958816.1:p.Leu704=
NM_201414.3:c.1944G>C	NP_958817.1:p.Leu648=
NM_001136131.3:c.1839G>C	NP_001129603.1:p.Leu613=
NM_001385253.1:c.2001G>C	NP_001372182.1:p.Leu667=