Canonical Allele Identifier: CA9723445

Gene: TBC1D20

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.438648G>A , CM000682.2:g.438648G>A	GRCh38
NC_000020.10:g.419292G>A , CM000682.1:g.419292G>A	GRCh37
NC_000020.9:g.367292G>A	NCBI36
NG_034082.1:g.28906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354200.5:c.1150C>T MANE Select	ENSP00000346139.4:p.Leu384=
ENST00000461188.6:n.2390C>T
ENST00000679451.1:n.1344C>T
ENST00000679741.1:c.1150C>T	ENSP00000504904.1:p.Leu384=
ENST00000679895.1:c.1246C>T	ENSP00000505197.1:p.Leu416=
ENST00000679944.1:c.1150C>T	ENSP00000506278.1:p.Leu384=
ENST00000679953.1:n.2039C>T
ENST00000679973.1:c.1078C>T	ENSP00000506502.1:p.Leu360=
ENST00000680050.1:c.964C>T	ENSP00000505464.1:p.Leu322=
ENST00000680088.1:n.1295C>T
ENST00000680106.1:c.1150C>T	ENSP00000505500.1:p.Leu384=
ENST00000680284.1:c.1150C>T	ENSP00000506231.1:p.Leu384=
ENST00000680491.1:n.2641C>T
ENST00000680515.1:c.964C>T	ENSP00000506650.1:p.Leu322=
ENST00000680521.1:n.3566C>T
ENST00000680792.1:c.1150C>T	ENSP00000506012.1:p.Leu384=
ENST00000680815.1:n.4110C>T
ENST00000680911.1:c.1078C>T	ENSP00000506556.1:p.Leu360=
ENST00000680990.1:c.*922C>T	ENSP00000506050.1:n.*922C>T
ENST00000681129.1:c.964C>T	ENSP00000505329.1:p.Leu322=
ENST00000681193.1:n.4344C>T
ENST00000681389.1:n.2482C>T
ENST00000681414.1:c.1069C>T	ENSP00000505797.1:p.Leu357=
ENST00000681441.1:c.*694C>T	ENSP00000504992.1:n.*694C>T
ENST00000681539.1:c.1150C>T	ENSP00000505557.1:p.Leu384=
ENST00000681551.1:c.1075C>T	ENSP00000504974.1:p.Leu359=
ENST00000681636.1:c.1150C>T	ENSP00000506155.1:p.Leu384=
ENST00000681742.1:c.1150C>T	ENSP00000506122.1:p.Leu384=
ENST00000681777.1:c.*518C>T	ENSP00000506511.1:n.*518C>T
ENST00000354200.4:c.1150C>T	ENSP00000346139.4:p.Leu384=
ENST00000461188.5:n.2027C>T
ENST00000461304.5:c.1150C>T	ENSP00000432280.1:p.Leu384=
ENST00000494633.1:n.1455C>T
NM_144628.3:c.1150C>T	NP_653229.1:p.Leu384=
NR_111901.1:n.1298C>T
XM_005260661.1:c.1150C>T	XP_005260718.1:p.Leu384=
XM_006723540.2:c.964C>T	XP_006723603.1:p.Leu322=
XM_006723540.3:c.964C>T	XP_006723603.1:p.Leu322=
XM_017027645.1:c.964C>T	XP_016883134.1:p.Leu322=
NM_144628.4:c.1150C>T MANE Select	NP_653229.1:p.Leu384=
NR_111901.2:n.1278C>T