Canonical Allele Identifier: CA3980919
Community Standard Title: NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)
Gene: TBC1D32 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121241510G>A , CM000668.2:g.121241510G>A GRCh38
NC_000006.11:g.121562656G>A , CM000668.1:g.121562656G>A GRCh37
NC_000006.10:g.121604355G>A NCBI36
NG_034203.1:g.97991C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152730.6:c.2200C>T MANE Select NP_689943.4:p.Arg734Ter
ENST00000398212.7:c.2200C>T MANE Select ENSP00000381270.2:p.Arg734Ter
NM_001367759.1:c.2200C>T NP_001354688.1:p.Arg734Ter
NM_001367760.1:c.2200C>T NP_001354689.1:p.Arg734Ter
NM_152730.5:c.2200C>T NP_689943.4:p.Arg734Ter
NR_104452.1:n.2288C>T
NR_104452.2:n.2268C>T
ENST00000275159.10:c.2200C>T ENSP00000275159.6:p.Arg734Ter
ENST00000275159.11:c.2200C>T ENSP00000275159.6:p.Arg734Ter
ENST00000398212.6:c.2200C>T ENSP00000381270.2:p.Arg734Ter
ENST00000464622.5:c.*1891C>T ENSP00000428839.1:n.*1891C>T
XM_005266861.2:c.2200C>T XP_005266918.1:p.Arg734Ter
XM_005266861.3:c.2200C>T XP_005266918.1:p.Arg734Ter
XM_011535569.1:c.2200C>T XP_011533871.1:p.Arg734Ter
XM_011535569.2:c.2200C>T XP_011533871.1:p.Arg734Ter
XM_011535570.1:c.2200C>T XP_011533872.1:p.Arg734Ter
XM_011535571.1:c.2200C>T XP_011533873.1:p.Arg734Ter
XM_011535571.3:c.2200C>T XP_011533873.1:p.Arg734Ter
XM_011535572.1:c.2200C>T XP_011533874.1:p.Arg734Ter
XM_011535573.1:c.2074C>T XP_011533875.1:p.Arg692Ter
XM_011535574.1:c.1873C>T XP_011533876.1:p.Arg625Ter
XM_011535575.1:c.2200C>T XP_011533877.1:p.Arg734Ter
XM_011535575.3:c.2200C>T XP_011533877.1:p.Arg734Ter
XM_011535576.1:c.2200C>T XP_011533878.1:p.Arg734Ter
XM_011535576.2:c.2200C>T XP_011533878.1:p.Arg734Ter
XM_011535577.1:c.2200C>T XP_011533879.1:p.Arg734Ter
XM_011535578.1:c.2200C>T XP_011533880.1:p.Arg734Ter
XM_011535579.1:c.1021C>T XP_011533881.1:p.Arg341Ter
XM_011535580.1:c.1021C>T XP_011533882.1:p.Arg341Ter
XM_011535580.2:c.1021C>T XP_011533882.1:p.Arg341Ter
XM_011535581.1:c.2200C>T XP_011533883.1:p.Arg734Ter
XM_011535582.1:c.2200C>T XP_011533884.1:p.Arg734Ter
XM_011535582.3:c.2200C>T XP_011533884.1:p.Arg734Ter
XM_011535583.1:c.2200C>T XP_011533885.1:p.Arg734Ter
XM_011535584.1:c.2200C>T XP_011533886.1:p.Arg734Ter
XM_011535585.1:c.2200C>T XP_011533887.1:p.Arg734Ter
XM_011535585.2:c.2200C>T XP_011533887.1:p.Arg734Ter
XM_011535586.1:c.2019-2322C>T XP_011533888.1:n.2019-2322C>T
XM_017010397.1:c.2200C>T XP_016865886.1:p.Arg734Ter
XM_017010398.2:c.2200C>T XP_016865887.1:p.Arg734Ter
XM_017010399.1:c.2200C>T XP_016865888.1:p.Arg734Ter
XM_017010400.1:c.2074C>T XP_016865889.1:p.Arg692Ter
XM_017010401.1:c.2200C>T XP_016865890.1:p.Arg734Ter
XM_017010402.2:c.2200C>T XP_016865891.1:p.Arg734Ter
XM_017010403.1:c.2200C>T XP_016865892.1:p.Arg734Ter
XM_017010404.1:c.388C>T XP_016865893.1:p.Arg130Ter
XM_017010405.1:c.2019-2322C>T XP_016865894.1:n.2019-2322C>T
XR_001743231.1:n.2318C>T
XR_001743232.2:n.2268C>T
XR_942343.1:n.2270C>T
XR_942345.1:n.2270C>T
XR_942346.1:n.2270C>T
XR_942346.2:n.2318C>T