Canonical Allele Identifier: CA407944692

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.420998A>T (hg19) ; chr20:g.440354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440354A>T , CM000682.2:g.440354A>T	GRCh38
NC_000020.10:g.420998A>T , CM000682.1:g.420998A>T	GRCh37
NC_000020.9:g.368998A>T	NCBI36
NG_034082.1:g.27200T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.662T>A MANE Select	ENSP00000346139.4:p.Leu221His
ENST00000461188.6:n.1902T>A
ENST00000679451.1:n.893-37T>A
ENST00000679741.1:c.662T>A	ENSP00000504904.1:p.Leu221His
ENST00000679895.1:c.758T>A	ENSP00000505197.1:p.Leu253His
ENST00000679944.1:c.662T>A	ENSP00000506278.1:p.Leu221His
ENST00000679953.1:n.1551T>A
ENST00000679973.1:c.627-37T>A	ENSP00000506502.1:n.627-37T>A
ENST00000680050.1:c.476T>A	ENSP00000505464.1:p.Leu159His
ENST00000680088.1:n.807T>A
ENST00000680106.1:c.662T>A	ENSP00000505500.1:p.Leu221His
ENST00000680284.1:c.662T>A	ENSP00000506231.1:p.Leu221His
ENST00000680491.1:n.2153T>A
ENST00000680515.1:c.476T>A	ENSP00000506650.1:p.Leu159His
ENST00000680521.1:n.2126T>A
ENST00000680792.1:c.662T>A	ENSP00000506012.1:p.Leu221His
ENST00000680815.1:n.3622T>A
ENST00000680911.1:c.627-37T>A	ENSP00000506556.1:n.627-37T>A
ENST00000680990.1:c.*434T>A	ENSP00000506050.1:n.*434T>A
ENST00000681129.1:c.476T>A	ENSP00000505329.1:p.Leu159His
ENST00000681193.1:n.2904T>A
ENST00000681389.1:n.1994T>A
ENST00000681414.1:c.581T>A	ENSP00000505797.1:p.Leu194His
ENST00000681441.1:c.*206T>A	ENSP00000504992.1:n.*206T>A
ENST00000681539.1:c.662T>A	ENSP00000505557.1:p.Leu221His
ENST00000681551.1:c.662T>A	ENSP00000504974.1:p.Leu221His
ENST00000681636.1:c.662T>A	ENSP00000506155.1:p.Leu221His
ENST00000681742.1:c.662T>A	ENSP00000506122.1:p.Leu221His
ENST00000681777.1:c.*30T>A	ENSP00000506511.1:n.*30T>A
ENST00000354200.4:c.662T>A	ENSP00000346139.4:p.Leu221His
ENST00000461188.5:n.1539T>A
ENST00000461304.5:c.662T>A	ENSP00000432280.1:p.Leu221His
ENST00000494633.1:n.967T>A
NM_144628.3:c.662T>A	NP_653229.1:p.Leu221His
NR_111901.1:n.810T>A
XM_005260661.1:c.662T>A	XP_005260718.1:p.Leu221His
XM_006723540.2:c.476T>A	XP_006723603.1:p.Leu159His
XM_006723540.3:c.476T>A	XP_006723603.1:p.Leu159His
XM_017027645.1:c.476T>A	XP_016883134.1:p.Leu159His
NM_144628.4:c.662T>A MANE Select	NP_653229.1:p.Leu221His
NR_111901.2:n.790T>A