Canonical Allele Identifier: CA9723472

Gene: TBC1D20

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.438793C>T , CM000682.2:g.438793C>T	GRCh38
NC_000020.10:g.419437C>T , CM000682.1:g.419437C>T	GRCh37
NC_000020.9:g.367437C>T	NCBI36
NG_034082.1:g.28761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354200.5:c.1005G>A MANE Select	ENSP00000346139.4:p.Gln335=
ENST00000461188.6:n.2245G>A
ENST00000679451.1:n.1199G>A
ENST00000679741.1:c.1005G>A	ENSP00000504904.1:p.Gln335=
ENST00000679895.1:c.1101G>A	ENSP00000505197.1:p.Gln367=
ENST00000679944.1:c.1005G>A	ENSP00000506278.1:p.Gln335=
ENST00000679953.1:n.1894G>A
ENST00000679973.1:c.933G>A	ENSP00000506502.1:p.Gln311=
ENST00000680050.1:c.819G>A	ENSP00000505464.1:p.Gln273=
ENST00000680088.1:n.1150G>A
ENST00000680106.1:c.1005G>A	ENSP00000505500.1:p.Gln335=
ENST00000680284.1:c.1005G>A	ENSP00000506231.1:p.Gln335=
ENST00000680491.1:n.2496G>A
ENST00000680515.1:c.819G>A	ENSP00000506650.1:p.Gln273=
ENST00000680521.1:n.3421G>A
ENST00000680792.1:c.1005G>A	ENSP00000506012.1:p.Gln335=
ENST00000680815.1:n.3965G>A
ENST00000680911.1:c.933G>A	ENSP00000506556.1:p.Gln311=
ENST00000680990.1:c.*777G>A	ENSP00000506050.1:n.*777G>A
ENST00000681129.1:c.819G>A	ENSP00000505329.1:p.Gln273=
ENST00000681193.1:n.4199G>A
ENST00000681389.1:n.2337G>A
ENST00000681414.1:c.924G>A	ENSP00000505797.1:p.Gln308=
ENST00000681441.1:c.*549G>A	ENSP00000504992.1:n.*549G>A
ENST00000681539.1:c.1005G>A	ENSP00000505557.1:p.Gln335=
ENST00000681551.1:c.930G>A	ENSP00000504974.1:p.Gln310=
ENST00000681636.1:c.1005G>A	ENSP00000506155.1:p.Gln335=
ENST00000681742.1:c.1005G>A	ENSP00000506122.1:p.Gln335=
ENST00000681777.1:c.*373G>A	ENSP00000506511.1:n.*373G>A
ENST00000354200.4:c.1005G>A	ENSP00000346139.4:p.Gln335=
ENST00000461188.5:n.1882G>A
ENST00000461304.5:c.1005G>A	ENSP00000432280.1:p.Gln335=
ENST00000494633.1:n.1310G>A
NM_144628.3:c.1005G>A	NP_653229.1:p.Gln335=
NR_111901.1:n.1153G>A
XM_005260661.1:c.1005G>A	XP_005260718.1:p.Gln335=
XM_006723540.2:c.819G>A	XP_006723603.1:p.Gln273=
XM_006723540.3:c.819G>A	XP_006723603.1:p.Gln273=
XM_017027645.1:c.819G>A	XP_016883134.1:p.Gln273=
NM_144628.4:c.1005G>A MANE Select	NP_653229.1:p.Gln335=
NR_111901.2:n.1133G>A