Canonical Allele Identifier: CA511685982

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264082C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891770C>G , CM000683.2:g.25891770C>G	GRCh38
NC_000021.8:g.27264082C>G , CM000683.1:g.27264082C>G	GRCh37
NC_000021.7:g.26185953C>G	NCBI36
NG_007376.1:g.284051G>C
NG_007376.2:g.284359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2130G>C
ENST00000707133.1:n.560G>C
ENST00000707134.1:n.829G>C
ENST00000346798.8:c.2163G>C MANE Select	ENSP00000284981.4:p.Val721=
ENST00000346798.7:c.2163G>C	ENSP00000284981.4:p.Val721=
ENST00000348990.9:c.1938G>C	ENSP00000345463.5:p.Val646=
ENST00000354192.7:c.1770G>C	ENSP00000346129.3:p.Val590=
ENST00000357903.7:c.2106G>C	ENSP00000350578.3:p.Val702=
ENST00000358918.7:c.2109G>C	ENSP00000351796.3:p.Val703=
ENST00000359726.7:c.1833G>C	ENSP00000352760.4:p.Val611=
ENST00000439274.6:c.1995G>C	ENSP00000398879.2:p.Val665=
ENST00000440126.7:c.2091G>C	ENSP00000387483.2:p.Val697=
ENST00000464867.1:n.510G>C
NM_000484.3:c.2163G>C	NP_000475.1:p.Val721=
NM_001136016.3:c.2091G>C	NP_001129488.1:p.Val697=
NM_001136129.2:c.1770G>C	NP_001129601.1:p.Val590=
NM_001136130.2:c.1995G>C	NP_001129602.1:p.Val665=
NM_001136131.2:c.1833G>C	NP_001129603.1:p.Val611=
NM_001204301.1:c.2109G>C	NP_001191230.1:p.Val703=
NM_001204302.1:c.2052G>C	NP_001191231.1:p.Val684=
NM_001204303.1:c.1884G>C	NP_001191232.1:p.Val628=
NM_201413.2:c.2106G>C	NP_958816.1:p.Val702=
NM_201414.2:c.1938G>C	NP_958817.1:p.Val646=
NM_000484.4:c.2163G>C MANE Select	NP_000475.1:p.Val721=
NM_001136129.3:c.1770G>C	NP_001129601.1:p.Val590=
NM_001136130.3:c.1995G>C	NP_001129602.1:p.Val665=
NM_001204301.2:c.2109G>C	NP_001191230.1:p.Val703=
NM_001204302.2:c.2052G>C	NP_001191231.1:p.Val684=
NM_001204303.2:c.1884G>C	NP_001191232.1:p.Val628=
NM_201413.3:c.2106G>C	NP_958816.1:p.Val702=
NM_201414.3:c.1938G>C	NP_958817.1:p.Val646=
NM_001136131.3:c.1833G>C	NP_001129603.1:p.Val611=
NM_001385253.1:c.1995G>C	NP_001372182.1:p.Val665=