Canonical Allele Identifier: CA409806594

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269985C>G (hg19) ; chr21:g.25897673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897673C>G , CM000683.2:g.25897673C>G	GRCh38
NC_000021.8:g.27269985C>G , CM000683.1:g.27269985C>G	GRCh37
NC_000021.7:g.26191856C>G	NCBI36
NG_007376.1:g.278148G>C
NG_007376.2:g.278456G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1931G>C
ENST00000707133.1:n.361G>C
ENST00000707134.1:n.630G>C
ENST00000346798.8:c.1964G>C MANE Select	ENSP00000284981.4:p.Gly655Ala
ENST00000346798.7:c.1964G>C	ENSP00000284981.4:p.Gly655Ala
ENST00000348990.9:c.1739G>C	ENSP00000345463.5:p.Gly580Ala
ENST00000354192.7:c.1571G>C	ENSP00000346129.3:p.Gly524Ala
ENST00000357903.7:c.1907G>C	ENSP00000350578.3:p.Gly636Ala
ENST00000358918.7:c.1910G>C	ENSP00000351796.3:p.Gly637Ala
ENST00000359726.7:c.1634G>C	ENSP00000352760.4:p.Gly545Ala
ENST00000439274.6:c.1796G>C	ENSP00000398879.2:p.Gly599Ala
ENST00000440126.7:c.1892G>C	ENSP00000387483.2:p.Gly631Ala
ENST00000464867.1:n.311G>C
NM_000484.3:c.1964G>C	NP_000475.1:p.Gly655Ala
NM_001136016.3:c.1892G>C	NP_001129488.1:p.Gly631Ala
NM_001136129.2:c.1571G>C	NP_001129601.1:p.Gly524Ala
NM_001136130.2:c.1796G>C	NP_001129602.1:p.Gly599Ala
NM_001136131.2:c.1634G>C	NP_001129603.1:p.Gly545Ala
NM_001204301.1:c.1910G>C	NP_001191230.1:p.Gly637Ala
NM_001204302.1:c.1853G>C	NP_001191231.1:p.Gly618Ala
NM_001204303.1:c.1685G>C	NP_001191232.1:p.Gly562Ala
NM_201413.2:c.1907G>C	NP_958816.1:p.Gly636Ala
NM_201414.2:c.1739G>C	NP_958817.1:p.Gly580Ala
NM_000484.4:c.1964G>C MANE Select	NP_000475.1:p.Gly655Ala
NM_001136129.3:c.1571G>C	NP_001129601.1:p.Gly524Ala
NM_001136130.3:c.1796G>C	NP_001129602.1:p.Gly599Ala
NM_001204301.2:c.1910G>C	NP_001191230.1:p.Gly637Ala
NM_001204302.2:c.1853G>C	NP_001191231.1:p.Gly618Ala
NM_001204303.2:c.1685G>C	NP_001191232.1:p.Gly562Ala
NM_201413.3:c.1907G>C	NP_958816.1:p.Gly636Ala
NM_201414.3:c.1739G>C	NP_958817.1:p.Gly580Ala
NM_001136131.3:c.1634G>C	NP_001129603.1:p.Gly545Ala
NM_001385253.1:c.1796G>C	NP_001372182.1:p.Gly599Ala