Canonical Allele Identifier: CA409806289

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27269902C>G (hg19) ; chr21:g.25897590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897590C>G , CM000683.2:g.25897590C>G	GRCh38
NC_000021.8:g.27269902C>G , CM000683.1:g.27269902C>G	GRCh37
NC_000021.7:g.26191773C>G	NCBI36
NG_007376.1:g.278231G>C
NG_007376.2:g.278539G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2014G>C
ENST00000707133.1:n.444G>C
ENST00000707134.1:n.713G>C
ENST00000346798.8:c.2047G>C MANE Select	ENSP00000284981.4:p.Val683Leu
ENST00000346798.7:c.2047G>C	ENSP00000284981.4:p.Val683Leu
ENST00000348990.9:c.1822G>C	ENSP00000345463.5:p.Val608Leu
ENST00000354192.7:c.1654G>C	ENSP00000346129.3:p.Val552Leu
ENST00000357903.7:c.1990G>C	ENSP00000350578.3:p.Val664Leu
ENST00000358918.7:c.1993G>C	ENSP00000351796.3:p.Val665Leu
ENST00000359726.7:c.1717G>C	ENSP00000352760.4:p.Val573Leu
ENST00000439274.6:c.1879G>C	ENSP00000398879.2:p.Val627Leu
ENST00000440126.7:c.1975G>C	ENSP00000387483.2:p.Val659Leu
ENST00000464867.1:n.394G>C
NM_000484.3:c.2047G>C	NP_000475.1:p.Val683Leu
NM_001136016.3:c.1975G>C	NP_001129488.1:p.Val659Leu
NM_001136129.2:c.1654G>C	NP_001129601.1:p.Val552Leu
NM_001136130.2:c.1879G>C	NP_001129602.1:p.Val627Leu
NM_001136131.2:c.1717G>C	NP_001129603.1:p.Val573Leu
NM_001204301.1:c.1993G>C	NP_001191230.1:p.Val665Leu
NM_001204302.1:c.1936G>C	NP_001191231.1:p.Val646Leu
NM_001204303.1:c.1768G>C	NP_001191232.1:p.Val590Leu
NM_201413.2:c.1990G>C	NP_958816.1:p.Val664Leu
NM_201414.2:c.1822G>C	NP_958817.1:p.Val608Leu
NM_000484.4:c.2047G>C MANE Select	NP_000475.1:p.Val683Leu
NM_001136129.3:c.1654G>C	NP_001129601.1:p.Val552Leu
NM_001136130.3:c.1879G>C	NP_001129602.1:p.Val627Leu
NM_001204301.2:c.1993G>C	NP_001191230.1:p.Val665Leu
NM_001204302.2:c.1936G>C	NP_001191231.1:p.Val646Leu
NM_001204303.2:c.1768G>C	NP_001191232.1:p.Val590Leu
NM_201413.3:c.1990G>C	NP_958816.1:p.Val664Leu
NM_201414.3:c.1822G>C	NP_958817.1:p.Val608Leu
NM_001136131.3:c.1717G>C	NP_001129603.1:p.Val573Leu
NM_001385253.1:c.1879G>C	NP_001372182.1:p.Val627Leu