Canonical Allele Identifier: CA2102696554
Community Standard Title: NM_014832.5(TBC1D4):c.2050C= (p.Arg684=)
Gene: TBC1D4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75324385G= , CM000675.2:g.75324385G= GRCh38
NC_000013.10:g.75898521G= , CM000675.1:g.75898521G= GRCh37
NC_000013.9:g.74796522G= NCBI36
NG_042850.1:g.162784C=

Transcript Alleles

HGVS Amino-acid Change
NM_014832.5:c.2050C= MANE Select NP_055647.2:p.Arg684=
ENST00000377636.8:c.2050C= MANE Select ENSP00000366863.3:p.Arg684=
NM_001286658.1:c.2050C= NP_001273587.1:p.Arg684=
NM_001286658.2:c.2050C= NP_001273587.1:p.Arg684=
NM_001286659.1:c.2033+1812C= NP_001273588.1:n.2033+1812C=
NM_001286659.2:c.2033+1812C= NP_001273588.1:n.2033+1812C=
NM_014832.3:c.2050C= NP_055647.2:p.Arg684=
NM_014832.4:c.2050C= NP_055647.2:p.Arg684=
ENST00000377625.6:c.2033+1812C= ENSP00000366852.2:n.2033+1812C=
ENST00000377636.7:c.2050C= ENSP00000366863.3:p.Arg684=
ENST00000413735.1:c.569+1812C= ENSP00000396932.1:n.569+1812C=
ENST00000431480.6:c.2050C= ENSP00000395986.2:p.Arg684=
ENST00000488955.1:n.71C=
ENST00000648194.1:c.1490+1812C= ENSP00000496983.1:n.1490+1812C=
XM_005266603.1:c.1975C= XP_005266660.1:p.Arg659=
XM_005266603.2:c.1975C= XP_005266660.1:p.Arg659=
XM_005266605.1:c.1507C= XP_005266662.1:p.Arg503=
XM_005266605.3:c.1507C= XP_005266662.1:p.Arg503=
XM_006719903.2:c.1576C= XP_006719966.1:p.Arg526=
XM_006719903.3:c.1576C= XP_006719966.1:p.Arg526=
XM_011535331.1:c.1939C= XP_011533633.1:p.Arg647=
XM_011535331.2:c.1939C= XP_011533633.1:p.Arg647=
XM_017020882.2:c.1490+1812C= XP_016876371.1:n.1490+1812C=
XM_017020883.2:c.1379+1812C= XP_016876372.1:n.1379+1812C=