Canonical Allele Identifier: CA2102632589
Community Standard Title: NM_014832.5(TBC1D4):c.3824T= (p.Val1275=)
Gene: TBC1D4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75286865A= , CM000675.2:g.75286865A= GRCh38
NC_000013.10:g.75861001A= , CM000675.1:g.75861001A= GRCh37
NC_000013.9:g.74759002A= NCBI36
NG_042850.1:g.200304T=

Transcript Alleles

HGVS Amino-acid Change
NM_014832.5:c.3824T= MANE Select NP_055647.2:p.Val1275=
ENST00000377636.8:c.3824T= MANE Select ENSP00000366863.3:p.Val1275=
NM_001286658.1:c.3800T= NP_001273587.1:p.Val1267=
NM_001286658.2:c.3800T= NP_001273587.1:p.Val1267=
NM_001286659.1:c.3635T= NP_001273588.1:p.Val1212=
NM_001286659.2:c.3635T= NP_001273588.1:p.Val1212=
NM_014832.3:c.3824T= NP_055647.2:p.Val1275=
NM_014832.4:c.3824T= NP_055647.2:p.Val1275=
ENST00000377625.6:c.3635T= ENSP00000366852.2:p.Val1212=
ENST00000377636.7:c.3824T= ENSP00000366863.3:p.Val1275=
ENST00000431480.6:c.3800T= ENSP00000395986.2:p.Val1267=
ENST00000648194.1:c.3092T= ENSP00000496983.1:p.Val1031=
XM_005266603.1:c.3749T= XP_005266660.1:p.Val1250=
XM_005266603.2:c.3749T= XP_005266660.1:p.Val1250=
XM_005266605.1:c.3281T= XP_005266662.1:p.Val1094=
XM_005266605.3:c.3281T= XP_005266662.1:p.Val1094=
XM_006719903.2:c.3350T= XP_006719966.1:p.Val1117=
XM_006719903.3:c.3350T= XP_006719966.1:p.Val1117=
XM_011535331.1:c.3713T= XP_011533633.1:p.Val1238=
XM_011535331.2:c.3713T= XP_011533633.1:p.Val1238=
XM_017020882.2:c.3092T= XP_016876371.1:p.Val1031=
XM_017020883.2:c.2981T= XP_016876372.1:p.Val994=
XM_017020884.2:c.1391T= XP_016876373.1:p.Val464=