Canonical Allele Identifier: CA407944672

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.420993T>G (hg19) ; chr20:g.440349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440349T>G , CM000682.2:g.440349T>G	GRCh38
NC_000020.10:g.420993T>G , CM000682.1:g.420993T>G	GRCh37
NC_000020.9:g.368993T>G	NCBI36
NG_034082.1:g.27205A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.667A>C MANE Select	ENSP00000346139.4:p.Thr223Pro
ENST00000461188.6:n.1907A>C
ENST00000679451.1:n.893-32A>C
ENST00000679741.1:c.667A>C	ENSP00000504904.1:p.Thr223Pro
ENST00000679895.1:c.763A>C	ENSP00000505197.1:p.Thr255Pro
ENST00000679944.1:c.667A>C	ENSP00000506278.1:p.Thr223Pro
ENST00000679953.1:n.1556A>C
ENST00000679973.1:c.627-32A>C	ENSP00000506502.1:n.627-32A>C
ENST00000680050.1:c.481A>C	ENSP00000505464.1:p.Thr161Pro
ENST00000680088.1:n.812A>C
ENST00000680106.1:c.667A>C	ENSP00000505500.1:p.Thr223Pro
ENST00000680284.1:c.667A>C	ENSP00000506231.1:p.Thr223Pro
ENST00000680491.1:n.2158A>C
ENST00000680515.1:c.481A>C	ENSP00000506650.1:p.Thr161Pro
ENST00000680521.1:n.2131A>C
ENST00000680792.1:c.667A>C	ENSP00000506012.1:p.Thr223Pro
ENST00000680815.1:n.3627A>C
ENST00000680911.1:c.627-32A>C	ENSP00000506556.1:n.627-32A>C
ENST00000680990.1:c.*439A>C	ENSP00000506050.1:n.*439A>C
ENST00000681129.1:c.481A>C	ENSP00000505329.1:p.Thr161Pro
ENST00000681193.1:n.2909A>C
ENST00000681389.1:n.1999A>C
ENST00000681414.1:c.586A>C	ENSP00000505797.1:p.Thr196Pro
ENST00000681441.1:c.*211A>C	ENSP00000504992.1:n.*211A>C
ENST00000681539.1:c.667A>C	ENSP00000505557.1:p.Thr223Pro
ENST00000681551.1:c.667A>C	ENSP00000504974.1:p.Thr223Pro
ENST00000681636.1:c.667A>C	ENSP00000506155.1:p.Thr223Pro
ENST00000681742.1:c.667A>C	ENSP00000506122.1:p.Thr223Pro
ENST00000681777.1:c.*35A>C	ENSP00000506511.1:n.*35A>C
ENST00000354200.4:c.667A>C	ENSP00000346139.4:p.Thr223Pro
ENST00000461188.5:n.1544A>C
ENST00000461304.5:c.667A>C	ENSP00000432280.1:p.Thr223Pro
ENST00000494633.1:n.972A>C
NM_144628.3:c.667A>C	NP_653229.1:p.Thr223Pro
NR_111901.1:n.815A>C
XM_005260661.1:c.667A>C	XP_005260718.1:p.Thr223Pro
XM_006723540.2:c.481A>C	XP_006723603.1:p.Thr161Pro
XM_006723540.3:c.481A>C	XP_006723603.1:p.Thr161Pro
XM_017027645.1:c.481A>C	XP_016883134.1:p.Thr161Pro
NM_144628.4:c.667A>C MANE Select	NP_653229.1:p.Thr223Pro
NR_111901.2:n.795A>C