Canonical Allele Identifier: CA338266868
Community Standard Title: NM_018125.4(ARHGEF10L):c.2137C>T (p.Arg713Cys)
Gene: ARHGEF10L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17638655C>T , CM000663.2:g.17638655C>T GRCh38
NC_000001.10:g.17965150C>T , CM000663.1:g.17965150C>T GRCh37
NC_000001.9:g.17837737C>T NCBI36
NG_050860.1:g.123459C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018125.4:c.2137C>T MANE Select NP_060595.3:p.Arg713Cys
ENST00000361221.8:c.2137C>T MANE Select ENSP00000355060.3:p.Arg713Cys
NM_001011722.2:c.2020C>T NP_001011722.2:p.Arg674Cys
NM_001319837.1:c.2005C>T NP_001306766.1:p.Arg669Cys
NM_001319838.1:c.1246C>T NP_001306767.1:p.Arg416Cys
NM_001328124.1:c.1471C>T NP_001315053.1:p.Arg491Cys
NM_018125.3:c.2137C>T NP_060595.3:p.Arg713Cys
NR_137287.1:n.2299C>T
NR_137287.2:n.2436C>T
NR_137288.1:n.2179C>T
NR_137288.2:n.2316C>T
ENST00000167825.5:c.754C>T ENSP00000167825.5:p.Arg252Cys
ENST00000361221.7:c.2137C>T ENSP00000355060.3:p.Arg713Cys
ENST00000375408.7:c.1456C>T ENSP00000364557.3:p.Arg486Cys
ENST00000375415.5:c.2020C>T ENSP00000364564.1:p.Arg674Cys
ENST00000469726.5:n.2402C>T
XM_005245923.2:c.2032C>T XP_005245980.2:p.Arg678Cys
XM_005245925.2:c.2020C>T XP_005245982.2:p.Arg674Cys
XM_005245927.2:c.1471C>T XP_005245984.2:p.Arg491Cys
XM_005245929.2:c.1456C>T XP_005245986.2:p.Arg486Cys
XM_005245929.3:c.1456C>T XP_005245986.2:p.Arg486Cys
XM_006710728.1:c.2032C>T XP_006710791.1:p.Arg678Cys
XM_006710729.1:c.2029C>T XP_006710792.1:p.Arg677Cys
XM_006710731.1:c.2029C>T XP_006710794.1:p.Arg677Cys
XM_011541691.1:c.2023C>T XP_011539993.1:p.Arg675Cys
XM_011541691.2:c.2023C>T XP_011539993.1:p.Arg675Cys
XM_011541692.1:c.2017C>T XP_011539994.1:p.Arg673Cys
XM_011541692.2:c.2017C>T XP_011539994.1:p.Arg673Cys
XM_011541693.1:c.2008C>T XP_011539995.1:p.Arg670Cys
XM_011541693.2:c.2008C>T XP_011539995.1:p.Arg670Cys
XM_011541694.1:c.2005C>T XP_011539996.1:p.Arg669Cys
XM_011541695.1:c.2032C>T XP_011539997.1:p.Arg678Cys
XM_011541696.1:c.2017C>T XP_011539998.1:p.Arg673Cys
XM_017001617.1:c.2005C>T XP_016857106.1:p.Arg669Cys
XM_017001618.1:c.1426C>T XP_016857107.1:p.Arg476Cys
XM_017001619.1:c.2032C>T XP_016857108.1:p.Arg678Cys
XM_017001620.1:c.2017C>T XP_016857109.1:p.Arg673Cys
XM_017001621.1:c.2137C>T XP_016857110.1:p.Arg713Cys
XM_017001622.1:c.2122C>T XP_016857111.1:p.Arg708Cys
XM_024448059.1:c.2032C>T XP_024303827.1:p.Arg678Cys
XM_024448061.1:c.2032C>T XP_024303829.1:p.Arg678Cys
XM_024448062.1:c.2032C>T XP_024303830.1:p.Arg678Cys
XR_001737276.1:n.2162C>T
XR_001737277.1:n.2161C>T
XR_002956988.1:n.2161C>T
XR_002956989.1:n.2146C>T
XR_946686.1:n.2075C>T
XR_946686.3:n.2161C>T
XR_946687.1:n.2075C>T
XR_946688.1:n.2075C>T
XR_946688.2:n.2161C>T
XR_946689.1:n.2066C>T
XR_946689.2:n.2152C>T
XR_946690.1:n.2063C>T
XR_946690.2:n.2162C>T
XR_946691.1:n.2075C>T
XR_946691.2:n.2161C>T