Canonical Allele Identifier: CA382591984
Community Standard Title: NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111837480A>G , CM000673.2:g.111837480A>G GRCh38
NC_000011.9:g.111708203A>G , CM000673.1:g.111708203A>G GRCh37
NC_000011.8:g.111213413A>G NCBI36
NG_009210.1:g.39102T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.1460T>C MANE Select NP_079016.2:p.Leu487Pro
ENST00000616540.5:c.1460T>C MANE Select ENSP00000482437.1:p.Leu487Pro
NM_001077690.1:c.1439T>C NP_001071158.1:p.Leu480Pro
NM_001077691.1:c.947T>C NP_001071159.1:p.Leu316Pro
NM_001077691.2:c.947T>C NP_001071159.1:p.Leu316Pro
NM_001077692.1:c.926T>C NP_001071160.1:p.Leu309Pro
NM_001077692.2:c.926T>C NP_001071160.1:p.Leu309Pro
NM_001352409.1:c.926T>C NP_001339338.1:p.Leu309Pro
NM_001352410.1:c.926T>C NP_001339339.1:p.Leu309Pro
NM_001352411.1:c.926T>C NP_001339340.1:p.Leu309Pro
NM_001352411.2:c.926T>C NP_001339340.1:p.Leu309Pro
NM_001352412.1:c.926T>C NP_001339341.1:p.Leu309Pro
NM_001352412.2:c.926T>C NP_001339341.1:p.Leu309Pro
NM_001352413.1:c.947T>C NP_001339342.1:p.Leu316Pro
NM_001352414.1:c.947T>C NP_001339343.1:p.Leu316Pro
NM_001352414.2:c.947T>C NP_001339343.1:p.Leu316Pro
NM_001352415.1:c.926T>C NP_001339344.1:p.Leu309Pro
NM_001352416.1:c.926T>C NP_001339345.1:p.Leu309Pro
NM_001352417.1:c.1439T>C NP_001339346.1:p.Leu480Pro
NM_001352418.1:c.1316T>C NP_001339347.1:p.Leu439Pro
NM_001352419.1:c.947T>C NP_001339348.1:p.Leu316Pro
NM_001352420.1:c.926T>C NP_001339349.1:p.Leu309Pro
NM_001352420.2:c.926T>C NP_001339349.1:p.Leu309Pro
NM_001352421.1:c.926T>C NP_001339350.1:p.Leu309Pro
NM_001352421.2:c.926T>C NP_001339350.1:p.Leu309Pro
NM_001352422.1:c.851T>C NP_001339351.1:p.Leu284Pro
NM_001352422.2:c.851T>C NP_001339351.1:p.Leu284Pro
NM_001352423.1:c.803T>C NP_001339352.1:p.Leu268Pro
NM_001352423.2:c.803T>C NP_001339352.1:p.Leu268Pro
NR_147984.1:n.1836T>C
NR_147984.2:n.1856T>C
ENST00000398006.6:c.926T>C ENSP00000381090.2:p.Leu309Pro
ENST00000530851.6:n.537+15900T>C
ENST00000531154.5:c.947T>C ENSP00000435517.1:p.Leu316Pro
ENST00000532425.6:c.193T>C
ENST00000614444.4:c.1439T>C ENSP00000484200.1:p.Leu480Pro
ENST00000616540.4:c.1460T>C ENSP00000482437.1:p.Leu487Pro
ENST00000619129.4:c.*991T>C ENSP00000480661.1:n.*991T>C
ENST00000622211.4:c.2138T>C ENSP00000482396.1:p.Leu713Pro
XM_005277723.3:c.1460T>C XP_005277780.1:p.Leu487Pro
XM_005277723.5:c.1460T>C XP_005277780.1:p.Leu487Pro
XM_005277724.3:c.1439T>C XP_005277781.1:p.Leu480Pro
XM_006718913.2:c.1460T>C XP_006718976.1:p.Leu487Pro
XM_006718913.3:c.1460T>C XP_006718976.1:p.Leu487Pro
XM_011542990.1:c.1460T>C XP_011541292.1:p.Leu487Pro
XM_011542991.1:c.1439T>C XP_011541293.1:p.Leu480Pro
XM_011542992.1:c.1460T>C XP_011541294.1:p.Leu487Pro
XM_011542992.2:c.1460T>C XP_011541294.1:p.Leu487Pro
XM_011542993.1:c.947T>C XP_011541295.1:p.Leu316Pro
XM_011542994.1:c.947T>C XP_011541296.1:p.Leu316Pro
XM_011542995.1:c.947T>C XP_011541297.1:p.Leu316Pro
XM_011542996.1:c.947T>C XP_011541298.1:p.Leu316Pro
XM_011542997.1:c.872T>C XP_011541299.1:p.Leu291Pro
XM_017018313.2:c.1439T>C XP_016873802.1:p.Leu480Pro
XM_017018314.2:c.1337T>C XP_016873803.1:p.Leu446Pro
XM_024448695.1:c.1439T>C XP_024304463.1:p.Leu480Pro
XR_001747967.2:n.1548T>C
XR_001747968.2:n.1527T>C
XR_001747969.2:n.1425T>C
XR_001747970.2:n.1527T>C
XR_001747971.1:n.1856T>C
XR_001747972.1:n.1860T>C
XR_001747973.1:n.1563T>C
XR_001747974.1:n.1676T>C
XR_001747975.1:n.1835T>C
XR_001747976.1:n.1839T>C
XR_001747977.1:n.1012T>C
XR_001747979.1:n.1815T>C
XR_001747980.1:n.1511T>C
XR_947863.1:n.1559T>C
XR_947863.3:n.1548T>C
XR_947864.1:n.1383T>C
XR_947864.2:n.1372T>C
XR_947865.1:n.1383T>C
XR_947865.2:n.1372T>C