Canonical Allele Identifier: CA10505587
Community Standard Title: NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
Gene: CUL4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120544144A>C , CM000685.2:g.120544144A>C GRCh38
NC_000023.10:g.119677999A>C , CM000685.1:g.119677999A>C GRCh37
NC_000023.9:g.119562027A>C NCBI36
NG_009388.1:g.36686T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001079872.2:c.1143T>G MANE Select NP_001073341.1:p.Ala381=
ENST00000371322.11:c.1143T>G MANE Select ENSP00000360373.5:p.Ala381=
NM_001079872.1:c.1143T>G NP_001073341.1:p.Ala381=
NM_001330624.1:c.1158T>G NP_001317553.1:p.Ala386=
NM_001330624.2:c.1158T>G NP_001317553.1:p.Ala386=
NM_001369145.1:c.609T>G NP_001356074.1:p.Ala203=
NM_003588.3:c.1197T>G NP_003579.3:p.Ala399=
NM_003588.4:c.1197T>G NP_003579.3:p.Ala399=
ENST00000336592.10:c.1158T>G ENSP00000338919.6:p.Ala386=
ENST00000336592.11:c.1158T>G ENSP00000338919.6:p.Ala386=
ENST00000371322.9:c.1143T>G ENSP00000360373.5:p.Ala381=
ENST00000371323.2:c.609T>G ENSP00000360374.2:p.Ala203=
ENST00000371323.3:c.609T>G ENSP00000360374.3:p.Ala203=
ENST00000404115.7:c.1197T>G ENSP00000384109.3:p.Ala399=
ENST00000404115.8:c.1143T>G ENSP00000384109.4:p.Ala381=
ENST00000673919.1:c.*590T>G ENSP00000500994.1:n.*590T>G
ENST00000674073.2:c.587T>G
ENST00000674137.11:c.1143T>G ENSP00000501019.6:p.Ala381=
ENST00000679405.1:c.*352T>G ENSP00000504985.1:n.*352T>G
ENST00000679432.1:c.1248T>G
ENST00000679844.1:c.587T>G
ENST00000679927.1:c.798T>G ENSP00000505603.1:p.Ala266=
ENST00000680165.1:n.1469T>G
ENST00000680324.1:n.1057T>G
ENST00000680457.1:n.571T>G
ENST00000680474.1:c.587T>G
ENST00000680577.1:n.1304T>G
ENST00000680673.1:c.1197T>G ENSP00000505084.1:p.Ala399=
ENST00000680918.1:c.424T>G
ENST00000681080.1:c.633T>G
ENST00000681090.1:c.1050T>G ENSP00000506288.1:p.Ala350=
ENST00000681189.1:c.587T>G
ENST00000681206.1:c.1257T>G ENSP00000505480.1:p.Ala419=
ENST00000681224.1:n.423T>G
ENST00000681253.1:c.1197T>G ENSP00000506259.1:p.Ala399=
ENST00000681333.1:c.1143T>G ENSP00000505739.1:p.Ala381=
ENST00000681652.1:c.1197T>G ENSP00000505176.1:p.Ala399=
ENST00000681864.1:n.1787T>G
ENST00000681869.1:c.587T>G
ENST00000681908.1:c.587T>G
XM_005262481.1:c.1197T>G XP_005262538.1:p.Ala399=
XM_006724784.1:c.1158T>G XP_006724847.1:p.Ala386=
XM_006724785.1:c.1158T>G XP_006724848.1:p.Ala386=
XM_011531399.1:c.609T>G XP_011529701.1:p.Ala203=
XM_011531399.2:c.609T>G XP_011529701.1:p.Ala203=
XM_011531400.1:c.609T>G XP_011529702.1:p.Ala203=
XM_011531400.2:c.609T>G XP_011529702.1:p.Ala203=
XM_011531401.1:c.555T>G XP_011529703.1:p.Ala185=