Canonical Allele Identifier: CA382591251

Gene: ALG9

Linked Data

• MyVariant Identifiers: chr11:g.111706907A>T (hg19) ; chr11:g.111836184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111836184A>T , CM000673.2:g.111836184A>T	GRCh38
NC_000011.9:g.111706907A>T , CM000673.1:g.111706907A>T	GRCh37
NC_000011.8:g.111212117A>T	NCBI36
NG_009210.1:g.40398T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000616540.5:c.1583T>A MANE Select	ENSP00000482437.1:p.Leu528Gln
ENST00000398006.6:c.1049T>A	ENSP00000381090.2:p.Leu350Gln
ENST00000526272.5:n.147T>A
ENST00000530851.6:n.537+17196T>A
ENST00000531154.5:c.1070T>A	ENSP00000435517.1:p.Leu357Gln
ENST00000532425.6:c.316T>A
ENST00000614444.4:c.1562T>A	ENSP00000484200.1:p.Leu521Gln
ENST00000616540.4:c.1583T>A	ENSP00000482437.1:p.Leu528Gln
ENST00000619129.4:c.*1114T>A	ENSP00000480661.1:n.*1114T>A
ENST00000622211.4:c.2261T>A	ENSP00000482396.1:p.Leu754Gln
NM_001077690.1:c.1562T>A	NP_001071158.1:p.Leu521Gln
NM_001077691.1:c.1070T>A	NP_001071159.1:p.Leu357Gln
NM_001077692.1:c.1049T>A	NP_001071160.1:p.Leu350Gln
NM_024740.2:c.1583T>A MANE Select	NP_079016.2:p.Leu528Gln
XM_005277723.3:c.1583T>A	XP_005277780.1:p.Leu528Gln
XM_005277724.3:c.1562T>A	XP_005277781.1:p.Leu521Gln
XM_006718913.2:c.1583T>A	XP_006718976.1:p.Leu528Gln
XM_011542990.1:c.1583T>A	XP_011541292.1:p.Leu528Gln
XM_011542991.1:c.1562T>A	XP_011541293.1:p.Leu521Gln
XM_011542992.1:c.1583T>A	XP_011541294.1:p.Leu528Gln
XM_011542993.1:c.1070T>A	XP_011541295.1:p.Leu357Gln
XM_011542994.1:c.1070T>A	XP_011541296.1:p.Leu357Gln
XM_011542995.1:c.1070T>A	XP_011541297.1:p.Leu357Gln
XM_011542996.1:c.1070T>A	XP_011541298.1:p.Leu357Gln
XM_011542997.1:c.995T>A	XP_011541299.1:p.Leu332Gln
XR_947863.1:n.1682T>A
XR_947864.1:n.1506T>A
XR_947865.1:n.1506T>A
NM_001352409.1:c.1049T>A	NP_001339338.1:p.Leu350Gln
NM_001352410.1:c.1049T>A	NP_001339339.1:p.Leu350Gln
NM_001352411.1:c.1049T>A	NP_001339340.1:p.Leu350Gln
NM_001352412.1:c.1049T>A	NP_001339341.1:p.Leu350Gln
NM_001352413.1:c.1070T>A	NP_001339342.1:p.Leu357Gln
NM_001352414.1:c.1070T>A	NP_001339343.1:p.Leu357Gln
NM_001352415.1:c.1049T>A	NP_001339344.1:p.Leu350Gln
NM_001352416.1:c.1049T>A	NP_001339345.1:p.Leu350Gln
NM_001352417.1:c.1562T>A	NP_001339346.1:p.Leu521Gln
NM_001352418.1:c.1439T>A	NP_001339347.1:p.Leu480Gln
NM_001352419.1:c.1070T>A	NP_001339348.1:p.Leu357Gln
NM_001352420.1:c.1049T>A	NP_001339349.1:p.Leu350Gln
NM_001352421.1:c.1049T>A	NP_001339350.1:p.Leu350Gln
NM_001352422.1:c.974T>A	NP_001339351.1:p.Leu325Gln
NM_001352423.1:c.926T>A	NP_001339352.1:p.Leu309Gln
NR_147984.1:n.1959T>A
XM_005277723.5:c.1583T>A	XP_005277780.1:p.Leu528Gln
XM_006718913.3:c.1583T>A	XP_006718976.1:p.Leu528Gln
XM_011542992.2:c.1583T>A	XP_011541294.1:p.Leu528Gln
XM_017018313.2:c.1562T>A	XP_016873802.1:p.Leu521Gln
XM_017018314.2:c.1460T>A	XP_016873803.1:p.Leu487Gln
XM_024448695.1:c.1562T>A	XP_024304463.1:p.Leu521Gln
XR_001747967.2:n.1671T>A
XR_001747968.2:n.1650T>A
XR_001747969.2:n.1548T>A
XR_001747970.2:n.1650T>A
XR_001747971.1:n.1979T>A
XR_001747972.1:n.1983T>A
XR_001747973.1:n.1686T>A
XR_001747974.1:n.1799T>A
XR_001747975.1:n.1958T>A
XR_001747976.1:n.1962T>A
XR_001747977.1:n.1135T>A
XR_001747979.1:n.1938T>A
XR_001747980.1:n.1634T>A
XR_947863.3:n.1671T>A
XR_947864.2:n.1495T>A
XR_947865.2:n.1495T>A
NM_001077691.2:c.1070T>A	NP_001071159.1:p.Leu357Gln
NM_001077692.2:c.1049T>A	NP_001071160.1:p.Leu350Gln
NM_001352411.2:c.1049T>A	NP_001339340.1:p.Leu350Gln
NM_001352412.2:c.1049T>A	NP_001339341.1:p.Leu350Gln
NM_001352414.2:c.1070T>A	NP_001339343.1:p.Leu357Gln
NM_001352420.2:c.1049T>A	NP_001339349.1:p.Leu350Gln
NM_001352421.2:c.1049T>A	NP_001339350.1:p.Leu350Gln
NM_001352422.2:c.974T>A	NP_001339351.1:p.Leu325Gln
NM_001352423.2:c.926T>A	NP_001339352.1:p.Leu309Gln
NR_147984.2:n.1979T>A