Canonical Allele Identifier: CA409806510

Gene: APP

Linked Data

• gnomAD v4: 21-25897641-T-G
• MyVariant Identifiers: chr21:g.27269953T>G (hg19) ; chr21:g.25897641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897641T>G , CM000683.2:g.25897641T>G	GRCh38
NC_000021.8:g.27269953T>G , CM000683.1:g.27269953T>G	GRCh37
NC_000021.7:g.26191824T>G	NCBI36
NG_007376.1:g.278180A>C
NG_007376.2:g.278488A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1963A>C
ENST00000707133.1:n.393A>C
ENST00000707134.1:n.662A>C
ENST00000346798.8:c.1996A>C MANE Select	ENSP00000284981.4:p.Ile666Leu
ENST00000346798.7:c.1996A>C	ENSP00000284981.4:p.Ile666Leu
ENST00000348990.9:c.1771A>C	ENSP00000345463.5:p.Ile591Leu
ENST00000354192.7:c.1603A>C	ENSP00000346129.3:p.Ile535Leu
ENST00000357903.7:c.1939A>C	ENSP00000350578.3:p.Ile647Leu
ENST00000358918.7:c.1942A>C	ENSP00000351796.3:p.Ile648Leu
ENST00000359726.7:c.1666A>C	ENSP00000352760.4:p.Ile556Leu
ENST00000439274.6:c.1828A>C	ENSP00000398879.2:p.Ile610Leu
ENST00000440126.7:c.1924A>C	ENSP00000387483.2:p.Ile642Leu
ENST00000464867.1:n.343A>C
NM_000484.3:c.1996A>C	NP_000475.1:p.Ile666Leu
NM_001136016.3:c.1924A>C	NP_001129488.1:p.Ile642Leu
NM_001136129.2:c.1603A>C	NP_001129601.1:p.Ile535Leu
NM_001136130.2:c.1828A>C	NP_001129602.1:p.Ile610Leu
NM_001136131.2:c.1666A>C	NP_001129603.1:p.Ile556Leu
NM_001204301.1:c.1942A>C	NP_001191230.1:p.Ile648Leu
NM_001204302.1:c.1885A>C	NP_001191231.1:p.Ile629Leu
NM_001204303.1:c.1717A>C	NP_001191232.1:p.Ile573Leu
NM_201413.2:c.1939A>C	NP_958816.1:p.Ile647Leu
NM_201414.2:c.1771A>C	NP_958817.1:p.Ile591Leu
NM_000484.4:c.1996A>C MANE Select	NP_000475.1:p.Ile666Leu
NM_001136129.3:c.1603A>C	NP_001129601.1:p.Ile535Leu
NM_001136130.3:c.1828A>C	NP_001129602.1:p.Ile610Leu
NM_001204301.2:c.1942A>C	NP_001191230.1:p.Ile648Leu
NM_001204302.2:c.1885A>C	NP_001191231.1:p.Ile629Leu
NM_001204303.2:c.1717A>C	NP_001191232.1:p.Ile573Leu
NM_201413.3:c.1939A>C	NP_958816.1:p.Ile647Leu
NM_201414.3:c.1771A>C	NP_958817.1:p.Ile591Leu
NM_001136131.3:c.1666A>C	NP_001129603.1:p.Ile556Leu
NM_001385253.1:c.1828A>C	NP_001372182.1:p.Ile610Leu