Canonical Allele Identifier: CA509319107

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.420991G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440347G>C , CM000682.2:g.440347G>C	GRCh38
NC_000020.10:g.420991G>C , CM000682.1:g.420991G>C	GRCh37
NC_000020.9:g.368991G>C	NCBI36
NG_034082.1:g.27207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354200.5:c.669C>G MANE Select	ENSP00000346139.4:p.Thr223=
ENST00000461188.6:n.1909C>G
ENST00000679451.1:n.893-30C>G
ENST00000679741.1:c.669C>G	ENSP00000504904.1:p.Thr223=
ENST00000679895.1:c.765C>G	ENSP00000505197.1:p.Thr255=
ENST00000679944.1:c.669C>G	ENSP00000506278.1:p.Thr223=
ENST00000679953.1:n.1558C>G
ENST00000679973.1:c.627-30C>G	ENSP00000506502.1:n.627-30C>G
ENST00000680050.1:c.483C>G	ENSP00000505464.1:p.Thr161=
ENST00000680088.1:n.814C>G
ENST00000680106.1:c.669C>G	ENSP00000505500.1:p.Thr223=
ENST00000680284.1:c.669C>G	ENSP00000506231.1:p.Thr223=
ENST00000680491.1:n.2160C>G
ENST00000680515.1:c.483C>G	ENSP00000506650.1:p.Thr161=
ENST00000680521.1:n.2133C>G
ENST00000680792.1:c.669C>G	ENSP00000506012.1:p.Thr223=
ENST00000680815.1:n.3629C>G
ENST00000680911.1:c.627-30C>G	ENSP00000506556.1:n.627-30C>G
ENST00000680990.1:c.*441C>G	ENSP00000506050.1:n.*441C>G
ENST00000681129.1:c.483C>G	ENSP00000505329.1:p.Thr161=
ENST00000681193.1:n.2911C>G
ENST00000681389.1:n.2001C>G
ENST00000681414.1:c.588C>G	ENSP00000505797.1:p.Thr196=
ENST00000681441.1:c.*213C>G	ENSP00000504992.1:n.*213C>G
ENST00000681539.1:c.669C>G	ENSP00000505557.1:p.Thr223=
ENST00000681551.1:c.669C>G	ENSP00000504974.1:p.Thr223=
ENST00000681636.1:c.669C>G	ENSP00000506155.1:p.Thr223=
ENST00000681742.1:c.669C>G	ENSP00000506122.1:p.Thr223=
ENST00000681777.1:c.*37C>G	ENSP00000506511.1:n.*37C>G
ENST00000354200.4:c.669C>G	ENSP00000346139.4:p.Thr223=
ENST00000461188.5:n.1546C>G
ENST00000461304.5:c.669C>G	ENSP00000432280.1:p.Thr223=
ENST00000494633.1:n.974C>G
NM_144628.3:c.669C>G	NP_653229.1:p.Thr223=
NR_111901.1:n.817C>G
XM_005260661.1:c.669C>G	XP_005260718.1:p.Thr223=
XM_006723540.2:c.483C>G	XP_006723603.1:p.Thr161=
XM_006723540.3:c.483C>G	XP_006723603.1:p.Thr161=
XM_017027645.1:c.483C>G	XP_016883134.1:p.Thr161=
NM_144628.4:c.669C>G MANE Select	NP_653229.1:p.Thr223=
NR_111901.2:n.797C>G