Canonical Allele Identifier: CA407944653

Gene: TBC1D20

Linked Data

• MyVariant Identifiers: chr20:g.420988C>G (hg19) ; chr20:g.440344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440344C>G , CM000682.2:g.440344C>G	GRCh38
NC_000020.10:g.420988C>G , CM000682.1:g.420988C>G	GRCh37
NC_000020.9:g.368988C>G	NCBI36
NG_034082.1:g.27210G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.672G>C MANE Select	ENSP00000346139.4:p.Trp224Cys
ENST00000461188.6:n.1912G>C
ENST00000679451.1:n.893-27G>C
ENST00000679741.1:c.672G>C	ENSP00000504904.1:p.Trp224Cys
ENST00000679895.1:c.768G>C	ENSP00000505197.1:p.Trp256Cys
ENST00000679944.1:c.672G>C	ENSP00000506278.1:p.Trp224Cys
ENST00000679953.1:n.1561G>C
ENST00000679973.1:c.627-27G>C	ENSP00000506502.1:n.627-27G>C
ENST00000680050.1:c.486G>C	ENSP00000505464.1:p.Trp162Cys
ENST00000680088.1:n.817G>C
ENST00000680106.1:c.672G>C	ENSP00000505500.1:p.Trp224Cys
ENST00000680284.1:c.672G>C	ENSP00000506231.1:p.Trp224Cys
ENST00000680491.1:n.2163G>C
ENST00000680515.1:c.486G>C	ENSP00000506650.1:p.Trp162Cys
ENST00000680521.1:n.2136G>C
ENST00000680792.1:c.672G>C	ENSP00000506012.1:p.Trp224Cys
ENST00000680815.1:n.3632G>C
ENST00000680911.1:c.627-27G>C	ENSP00000506556.1:n.627-27G>C
ENST00000680990.1:c.*444G>C	ENSP00000506050.1:n.*444G>C
ENST00000681129.1:c.486G>C	ENSP00000505329.1:p.Trp162Cys
ENST00000681193.1:n.2914G>C
ENST00000681389.1:n.2004G>C
ENST00000681414.1:c.591G>C	ENSP00000505797.1:p.Trp197Cys
ENST00000681441.1:c.*216G>C	ENSP00000504992.1:n.*216G>C
ENST00000681539.1:c.672G>C	ENSP00000505557.1:p.Trp224Cys
ENST00000681551.1:c.672G>C	ENSP00000504974.1:p.Trp224Cys
ENST00000681636.1:c.672G>C	ENSP00000506155.1:p.Trp224Cys
ENST00000681742.1:c.672G>C	ENSP00000506122.1:p.Trp224Cys
ENST00000681777.1:c.*40G>C	ENSP00000506511.1:n.*40G>C
ENST00000354200.4:c.672G>C	ENSP00000346139.4:p.Trp224Cys
ENST00000461188.5:n.1549G>C
ENST00000461304.5:c.672G>C	ENSP00000432280.1:p.Trp224Cys
ENST00000494633.1:n.977G>C
NM_144628.3:c.672G>C	NP_653229.1:p.Trp224Cys
NR_111901.1:n.820G>C
XM_005260661.1:c.672G>C	XP_005260718.1:p.Trp224Cys
XM_006723540.2:c.486G>C	XP_006723603.1:p.Trp162Cys
XM_006723540.3:c.486G>C	XP_006723603.1:p.Trp162Cys
XM_017027645.1:c.486G>C	XP_016883134.1:p.Trp162Cys
NM_144628.4:c.672G>C MANE Select	NP_653229.1:p.Trp224Cys
NR_111901.2:n.800G>C