Canonical Allele Identifier: CA484056333
Gene: TBC1D4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.75884118G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75309982G>T , CM000675.2:g.75309982G>T GRCh38
NC_000013.10:g.75884118G>T , CM000675.1:g.75884118G>T GRCh37
NC_000013.9:g.74782119G>T NCBI36
NG_042850.1:g.177187C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377636.8:c.2553C>A MANE Select ENSP00000366863.3:p.Ile851=
ENST00000648194.1:c.1821C>A ENSP00000496983.1:p.Ile607=
ENST00000377625.6:c.2364C>A ENSP00000366852.2:p.Ile788=
ENST00000377636.7:c.2553C>A ENSP00000366863.3:p.Ile851=
ENST00000431480.6:c.2529C>A ENSP00000395986.2:p.Ile843=
ENST00000493487.1:n.412C>A
NM_001286658.1:c.2529C>A NP_001273587.1:p.Ile843=
NM_001286658.2:c.2529C>A NP_001273587.1:p.Ile843=
NM_001286659.1:c.2364C>A NP_001273588.1:p.Ile788=
NM_001286659.2:c.2364C>A NP_001273588.1:p.Ile788=
NM_014832.3:c.2553C>A NP_055647.2:p.Ile851=
NM_014832.4:c.2553C>A NP_055647.2:p.Ile851=
XM_005266603.1:c.2478C>A XP_005266660.1:p.Ile826=
XM_005266605.1:c.2010C>A XP_005266662.1:p.Ile670=
XM_006719903.2:c.2079C>A XP_006719966.1:p.Ile693=
XM_011535331.1:c.2442C>A XP_011533633.1:p.Ile814=
XM_005266603.2:c.2478C>A XP_005266660.1:p.Ile826=
XM_005266605.3:c.2010C>A XP_005266662.1:p.Ile670=
XM_006719903.3:c.2079C>A XP_006719966.1:p.Ile693=
XM_011535331.2:c.2442C>A XP_011533633.1:p.Ile814=
XM_017020882.2:c.1821C>A XP_016876371.1:p.Ile607=
XM_017020883.2:c.1710C>A XP_016876372.1:p.Ile570=
XM_017020884.2:c.120C>A XP_016876373.1:p.Ile40=
NM_014832.5:c.2553C>A MANE Select NP_055647.2:p.Ile851=