Canonical Allele Identifier: CA407944707

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.421001C>A (hg19) ; chr20:g.440357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440357C>A , CM000682.2:g.440357C>A	GRCh38
NC_000020.10:g.421001C>A , CM000682.1:g.421001C>A	GRCh37
NC_000020.9:g.369001C>A	NCBI36
NG_034082.1:g.27197G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.659G>T MANE Select	ENSP00000346139.4:p.Trp220Leu
ENST00000461188.6:n.1899G>T
ENST00000679451.1:n.893-40G>T
ENST00000679741.1:c.659G>T	ENSP00000504904.1:p.Trp220Leu
ENST00000679895.1:c.755G>T	ENSP00000505197.1:p.Trp252Leu
ENST00000679944.1:c.659G>T	ENSP00000506278.1:p.Trp220Leu
ENST00000679953.1:n.1548G>T
ENST00000679973.1:c.627-40G>T	ENSP00000506502.1:n.627-40G>T
ENST00000680050.1:c.473G>T	ENSP00000505464.1:p.Trp158Leu
ENST00000680088.1:n.804G>T
ENST00000680106.1:c.659G>T	ENSP00000505500.1:p.Trp220Leu
ENST00000680284.1:c.659G>T	ENSP00000506231.1:p.Trp220Leu
ENST00000680491.1:n.2150G>T
ENST00000680515.1:c.473G>T	ENSP00000506650.1:p.Trp158Leu
ENST00000680521.1:n.2123G>T
ENST00000680792.1:c.659G>T	ENSP00000506012.1:p.Trp220Leu
ENST00000680815.1:n.3619G>T
ENST00000680911.1:c.627-40G>T	ENSP00000506556.1:n.627-40G>T
ENST00000680990.1:c.*431G>T	ENSP00000506050.1:n.*431G>T
ENST00000681129.1:c.473G>T	ENSP00000505329.1:p.Trp158Leu
ENST00000681193.1:n.2901G>T
ENST00000681389.1:n.1991G>T
ENST00000681414.1:c.578G>T	ENSP00000505797.1:p.Trp193Leu
ENST00000681441.1:c.*203G>T	ENSP00000504992.1:n.*203G>T
ENST00000681539.1:c.659G>T	ENSP00000505557.1:p.Trp220Leu
ENST00000681551.1:c.659G>T	ENSP00000504974.1:p.Trp220Leu
ENST00000681636.1:c.659G>T	ENSP00000506155.1:p.Trp220Leu
ENST00000681742.1:c.659G>T	ENSP00000506122.1:p.Trp220Leu
ENST00000681777.1:c.*27G>T	ENSP00000506511.1:n.*27G>T
ENST00000354200.4:c.659G>T	ENSP00000346139.4:p.Trp220Leu
ENST00000461188.5:n.1536G>T
ENST00000461304.5:c.659G>T	ENSP00000432280.1:p.Trp220Leu
ENST00000494633.1:n.964G>T
NM_144628.3:c.659G>T	NP_653229.1:p.Trp220Leu
NR_111901.1:n.807G>T
XM_005260661.1:c.659G>T	XP_005260718.1:p.Trp220Leu
XM_006723540.2:c.473G>T	XP_006723603.1:p.Trp158Leu
XM_006723540.3:c.473G>T	XP_006723603.1:p.Trp158Leu
XM_017027645.1:c.473G>T	XP_016883134.1:p.Trp158Leu
NM_144628.4:c.659G>T MANE Select	NP_653229.1:p.Trp220Leu
NR_111901.2:n.787G>T