Canonical Allele Identifier: CA407944656

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.420989C>G (hg19) ; chr20:g.440345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440345C>G , CM000682.2:g.440345C>G	GRCh38
NC_000020.10:g.420989C>G , CM000682.1:g.420989C>G	GRCh37
NC_000020.9:g.368989C>G	NCBI36
NG_034082.1:g.27209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354200.5:c.671G>C MANE Select	ENSP00000346139.4:p.Trp224Ser
ENST00000461188.6:n.1911G>C
ENST00000679451.1:n.893-28G>C
ENST00000679741.1:c.671G>C	ENSP00000504904.1:p.Trp224Ser
ENST00000679895.1:c.767G>C	ENSP00000505197.1:p.Trp256Ser
ENST00000679944.1:c.671G>C	ENSP00000506278.1:p.Trp224Ser
ENST00000679953.1:n.1560G>C
ENST00000679973.1:c.627-28G>C	ENSP00000506502.1:n.627-28G>C
ENST00000680050.1:c.485G>C	ENSP00000505464.1:p.Trp162Ser
ENST00000680088.1:n.816G>C
ENST00000680106.1:c.671G>C	ENSP00000505500.1:p.Trp224Ser
ENST00000680284.1:c.671G>C	ENSP00000506231.1:p.Trp224Ser
ENST00000680491.1:n.2162G>C
ENST00000680515.1:c.485G>C	ENSP00000506650.1:p.Trp162Ser
ENST00000680521.1:n.2135G>C
ENST00000680792.1:c.671G>C	ENSP00000506012.1:p.Trp224Ser
ENST00000680815.1:n.3631G>C
ENST00000680911.1:c.627-28G>C	ENSP00000506556.1:n.627-28G>C
ENST00000680990.1:c.*443G>C	ENSP00000506050.1:n.*443G>C
ENST00000681129.1:c.485G>C	ENSP00000505329.1:p.Trp162Ser
ENST00000681193.1:n.2913G>C
ENST00000681389.1:n.2003G>C
ENST00000681414.1:c.590G>C	ENSP00000505797.1:p.Trp197Ser
ENST00000681441.1:c.*215G>C	ENSP00000504992.1:n.*215G>C
ENST00000681539.1:c.671G>C	ENSP00000505557.1:p.Trp224Ser
ENST00000681551.1:c.671G>C	ENSP00000504974.1:p.Trp224Ser
ENST00000681636.1:c.671G>C	ENSP00000506155.1:p.Trp224Ser
ENST00000681742.1:c.671G>C	ENSP00000506122.1:p.Trp224Ser
ENST00000681777.1:c.*39G>C	ENSP00000506511.1:n.*39G>C
ENST00000354200.4:c.671G>C	ENSP00000346139.4:p.Trp224Ser
ENST00000461188.5:n.1548G>C
ENST00000461304.5:c.671G>C	ENSP00000432280.1:p.Trp224Ser
ENST00000494633.1:n.976G>C
NM_144628.3:c.671G>C	NP_653229.1:p.Trp224Ser
NR_111901.1:n.819G>C
XM_005260661.1:c.671G>C	XP_005260718.1:p.Trp224Ser
XM_006723540.2:c.485G>C	XP_006723603.1:p.Trp162Ser
XM_006723540.3:c.485G>C	XP_006723603.1:p.Trp162Ser
XM_017027645.1:c.485G>C	XP_016883134.1:p.Trp162Ser
NM_144628.4:c.671G>C MANE Select	NP_653229.1:p.Trp224Ser
NR_111901.2:n.799G>C