Canonical Allele Identifier: CA121144
Community Standard Title: NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
Gene: HUWE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53535474G>A , CM000685.2:g.53535474G>A GRCh38
NC_000023.10:g.53562435G>A , CM000685.1:g.53562435G>A GRCh37
NC_000023.9:g.53579160G>A NCBI36
NG_016261.2:g.156260C>T

Transcript Alleles

HGVS Amino-acid Change
NM_031407.7:c.12559C>T MANE Select NP_113584.3:p.Arg4187Cys
ENST00000262854.11:c.12559C>T MANE Select ENSP00000262854.6:p.Arg4187Cys
NM_031407.6:c.12559C>T NP_113584.3:p.Arg4187Cys
ENST00000262854.10:c.12559C>T ENSP00000262854.6:p.Arg4187Cys
ENST00000342160.7:c.12559C>T ENSP00000340648.3:p.Arg4187Cys
ENST00000426907.5:c.3026C>T
ENST00000612484.4:c.12532C>T ENSP00000479451.1:p.Arg4178Cys
ENST00000704099.1:c.12343C>T ENSP00000515693.1:p.Arg4115Cys
XM_005261965.2:c.12559C>T XP_005262022.1:p.Arg4187Cys
XM_005261965.4:c.12559C>T XP_005262022.1:p.Arg4187Cys
XM_011530746.1:c.12808C>T XP_011529048.1:p.Arg4270Cys
XM_011530747.1:c.12808C>T XP_011529049.1:p.Arg4270Cys
XM_011530748.1:c.12808C>T XP_011529050.1:p.Arg4270Cys
XM_011530749.1:c.12808C>T XP_011529051.1:p.Arg4270Cys
XM_011530750.1:c.12808C>T XP_011529052.1:p.Arg4270Cys
XM_011530751.1:c.12808C>T XP_011529053.1:p.Arg4270Cys
XM_011530751.2:c.12808C>T XP_011529053.1:p.Arg4270Cys
XM_011530752.1:c.12805C>T XP_011529054.1:p.Arg4269Cys
XM_011530753.1:c.12763C>T XP_011529055.1:p.Arg4255Cys
XM_011530754.1:c.12760C>T XP_011529056.1:p.Arg4254Cys
XM_011530755.1:c.12757C>T XP_011529057.1:p.Arg4253Cys
XM_011530756.1:c.12709C>T XP_011529058.1:p.Arg4237Cys
XM_011530757.1:c.12406C>T XP_011529059.1:p.Arg4136Cys
XM_017029191.1:c.12940C>T XP_016884680.1:p.Arg4314Cys
XM_017029192.1:c.12937C>T XP_016884681.1:p.Arg4313Cys
XM_017029193.1:c.12919C>T XP_016884682.1:p.Arg4307Cys
XM_017029194.1:c.12895C>T XP_016884683.1:p.Arg4299Cys
XM_017029195.1:c.12892C>T XP_016884684.1:p.Arg4298Cys
XM_017029196.1:c.12889C>T XP_016884685.1:p.Arg4297Cys
XM_017029197.1:c.12841C>T XP_016884686.1:p.Arg4281Cys
XM_017029198.2:c.12829C>T XP_016884687.1:p.Arg4277Cys
XM_017029199.1:c.12829C>T XP_016884688.1:p.Arg4277Cys
XM_017029200.1:c.12829C>T XP_016884689.1:p.Arg4277Cys
XM_017029201.1:c.12829C>T XP_016884690.1:p.Arg4277Cys
XM_017029202.1:c.12829C>T XP_016884691.1:p.Arg4277Cys
XM_017029203.1:c.12829C>T XP_016884692.1:p.Arg4277Cys
XM_017029204.1:c.12691C>T XP_016884693.1:p.Arg4231Cys
XM_017029206.1:c.12538C>T XP_016884695.1:p.Arg4180Cys
XM_024452322.1:c.12808C>T XP_024308090.1:p.Arg4270Cys