Canonical Allele Identifier: CA6333321
Community Standard Title: NM_001387025.1(GRAMD1B):c.472C>G (p.Arg158Gly)
Gene: GRAMD1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123577386C>G , CM000673.2:g.123577386C>G GRCh38
NC_000011.9:g.123448094C>G , CM000673.1:g.123448094C>G GRCh37
NC_000011.8:g.122953304C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001387025.1:c.472C>G MANE Select NP_001373954.1:p.Arg158Gly
ENST00000635736.2:c.472C>G MANE Select ENSP00000490062.1:p.Arg158Gly
NM_001286563.1:c.43C>G NP_001273492.1:p.Arg15Gly
NM_001286563.2:c.43C>G NP_001273492.1:p.Arg15Gly
NM_001286563.3:c.43C>G NP_001273492.1:p.Arg15Gly
NM_001286564.1:c.-78C>G NP_001273493.1:n.-78C>G
NM_001286564.2:c.-78C>G NP_001273493.1:n.-78C>G
NM_001286564.3:c.-78C>G NP_001273493.1:n.-78C>G
NM_001330396.1:c.-78C>G NP_001317325.1:n.-78C>G
NM_001330396.2:c.-78C>G NP_001317325.1:n.-78C>G
NM_001330396.3:c.-78C>G NP_001317325.1:n.-78C>G
NM_001367418.1:c.124C>G NP_001354347.1:p.Arg42Gly
NM_001367418.2:c.124C>G NP_001354347.1:p.Arg42Gly
NM_001367419.1:c.124C>G NP_001354348.1:p.Arg42Gly
NM_001367419.2:c.124C>G NP_001354348.1:p.Arg42Gly
NM_001367420.1:c.124C>G NP_001354349.1:p.Arg42Gly
NM_001367420.2:c.124C>G NP_001354349.1:p.Arg42Gly
NM_001367421.1:c.340C>G NP_001354350.1:p.Arg114Gly
NM_001367421.2:c.340C>G NP_001354350.1:p.Arg114Gly
NM_001387024.1:c.472C>G NP_001373953.1:p.Arg158Gly
NM_001387026.1:c.469C>G NP_001373955.1:p.Arg157Gly
NM_001387028.1:c.43C>G NP_001373957.1:p.Arg15Gly
NM_001387029.1:c.43C>G NP_001373958.1:p.Arg15Gly
NM_001387030.1:c.-78C>G NP_001373959.1:n.-78C>G
NM_001387031.1:c.-78C>G NP_001373960.1:n.-78C>G
NM_001387032.1:c.-78C>G NP_001373961.1:n.-78C>G
NM_001387033.1:c.-78C>G NP_001373962.1:n.-78C>G
NM_001387034.1:c.-78C>G NP_001373963.1:n.-78C>G
NM_001387035.1:c.-78C>G NP_001373964.1:n.-78C>G
NM_020716.2:c.43C>G NP_065767.1:p.Arg15Gly
NM_020716.3:c.43C>G NP_065767.1:p.Arg15Gly
NM_020716.4:c.43C>G NP_065767.1:p.Arg15Gly
ENST00000322282.11:c.43C>G ENSP00000325628.7:p.Arg15Gly
ENST00000456860.6:c.43C>G ENSP00000402457.2:p.Arg15Gly
ENST00000529432.5:c.-78C>G ENSP00000432987.1:n.-78C>G
ENST00000529750.5:c.43C>G ENSP00000436500.1:p.Arg15Gly
ENST00000532581.5:n.286C>G
ENST00000534764.1:c.31C>G ENSP00000434214.1:p.Arg11Gly
ENST00000632815.1:c.-78C>G ENSP00000488714.1:n.-78C>G
ENST00000633087.1:c.112C>G ENSP00000488613.1:p.Arg38Gly
ENST00000633646.1:c.-78C>G ENSP00000488382.1:n.-78C>G
ENST00000635736.1:c.472C>G ENSP00000490062.1:p.Arg158Gly
ENST00000638086.1:c.130C>G ENSP00000490920.1:p.Arg44Gly
ENST00000638157.1:c.-78C>G ENSP00000489896.1:n.-78C>G
XM_005271619.3:c.43C>G XP_005271676.1:p.Arg15Gly
XM_005271619.4:c.43C>G XP_005271676.1:p.Arg15Gly
XM_005271621.3:c.-78C>G XP_005271678.1:n.-78C>G
XM_005271621.4:c.-78C>G XP_005271678.1:n.-78C>G
XM_005271622.3:c.133C>G XP_005271679.2:p.Arg45Gly
XM_005271623.3:c.-78C>G XP_005271680.1:n.-78C>G
XM_005271623.4:c.-78C>G XP_005271680.1:n.-78C>G
XM_005271624.3:c.100C>G XP_005271681.2:p.Arg34Gly
XM_005271624.4:c.100C>G XP_005271681.2:p.Arg34Gly
XM_006718892.2:c.172C>G XP_006718955.1:p.Arg58Gly
XM_006718892.3:c.172C>G XP_006718955.1:p.Arg58Gly
XM_011542926.1:c.169C>G XP_011541228.1:p.Arg57Gly
XM_011542926.2:c.169C>G XP_011541228.1:p.Arg57Gly
XM_011542927.1:c.169C>G XP_011541229.1:p.Arg57Gly
XM_011542928.1:c.-78C>G XP_011541230.1:n.-78C>G
XM_011542929.1:c.31C>G XP_011541231.1:p.Arg11Gly
XM_011542929.2:c.31C>G XP_011541231.1:p.Arg11Gly
XM_011542930.1:c.-78C>G XP_011541232.1:n.-78C>G
XM_011542930.2:c.-78C>G XP_011541232.1:n.-78C>G
XM_011542931.1:c.-78C>G XP_011541233.1:n.-78C>G
XM_011542931.2:c.-78C>G XP_011541233.1:n.-78C>G
XM_011542932.1:c.-78C>G XP_011541234.1:n.-78C>G
XM_011542934.1:c.-78C>G XP_011541236.1:n.-78C>G
XM_017018039.1:c.124C>G XP_016873528.1:p.Arg42Gly
XM_017018040.1:c.94C>G XP_016873529.1:p.Arg32Gly
XM_017018041.1:c.124C>G XP_016873530.1:p.Arg42Gly
XM_017018042.1:c.124C>G XP_016873531.1:p.Arg42Gly
XM_017018043.1:c.100C>G XP_016873532.1:p.Arg34Gly
XM_017018044.1:c.43C>G XP_016873533.1:p.Arg15Gly
XM_017018045.1:c.-78C>G XP_016873534.1:n.-78C>G
XM_017018046.1:c.-78C>G XP_016873535.1:n.-78C>G
XM_017018047.1:c.-78C>G XP_016873536.1:n.-78C>G
XM_017018048.1:c.-78C>G XP_016873537.1:n.-78C>G
XM_017018050.1:c.-78C>G XP_016873539.1:n.-78C>G
XM_024448622.1:c.46C>G XP_024304390.1:p.Arg16Gly