Canonical Allele Identifier: CA9723562

Gene: TBC1D20

Linked Data

• dbSNP Id: rs772278307
• ExAC: 20:420994 G / T
• gnomAD v2: 20-420994-G-T
• gnomAD v4: 20-440350-G-T
• MyVariant Identifiers: chr20:g.420994G>T (hg19) ; chr20:g.440350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440350G>T , CM000682.2:g.440350G>T	GRCh38
NC_000020.10:g.420994G>T , CM000682.1:g.420994G>T	GRCh37
NC_000020.9:g.368994G>T	NCBI36
NG_034082.1:g.27204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354200.5:c.666C>A MANE Select	ENSP00000346139.4:p.Ile222=
ENST00000461188.6:n.1906C>A
ENST00000679451.1:n.893-33C>A
ENST00000679741.1:c.666C>A	ENSP00000504904.1:p.Ile222=
ENST00000679895.1:c.762C>A	ENSP00000505197.1:p.Ile254=
ENST00000679944.1:c.666C>A	ENSP00000506278.1:p.Ile222=
ENST00000679953.1:n.1555C>A
ENST00000679973.1:c.627-33C>A	ENSP00000506502.1:n.627-33C>A
ENST00000680050.1:c.480C>A	ENSP00000505464.1:p.Ile160=
ENST00000680088.1:n.811C>A
ENST00000680106.1:c.666C>A	ENSP00000505500.1:p.Ile222=
ENST00000680284.1:c.666C>A	ENSP00000506231.1:p.Ile222=
ENST00000680491.1:n.2157C>A
ENST00000680515.1:c.480C>A	ENSP00000506650.1:p.Ile160=
ENST00000680521.1:n.2130C>A
ENST00000680792.1:c.666C>A	ENSP00000506012.1:p.Ile222=
ENST00000680815.1:n.3626C>A
ENST00000680911.1:c.627-33C>A	ENSP00000506556.1:n.627-33C>A
ENST00000680990.1:c.*438C>A	ENSP00000506050.1:n.*438C>A
ENST00000681129.1:c.480C>A	ENSP00000505329.1:p.Ile160=
ENST00000681193.1:n.2908C>A
ENST00000681389.1:n.1998C>A
ENST00000681414.1:c.585C>A	ENSP00000505797.1:p.Ile195=
ENST00000681441.1:c.*210C>A	ENSP00000504992.1:n.*210C>A
ENST00000681539.1:c.666C>A	ENSP00000505557.1:p.Ile222=
ENST00000681551.1:c.666C>A	ENSP00000504974.1:p.Ile222=
ENST00000681636.1:c.666C>A	ENSP00000506155.1:p.Ile222=
ENST00000681742.1:c.666C>A	ENSP00000506122.1:p.Ile222=
ENST00000681777.1:c.*34C>A	ENSP00000506511.1:n.*34C>A
ENST00000354200.4:c.666C>A	ENSP00000346139.4:p.Ile222=
ENST00000461188.5:n.1543C>A
ENST00000461304.5:c.666C>A	ENSP00000432280.1:p.Ile222=
ENST00000494633.1:n.971C>A
NM_144628.3:c.666C>A	NP_653229.1:p.Ile222=
NR_111901.1:n.814C>A
XM_005260661.1:c.666C>A	XP_005260718.1:p.Ile222=
XM_006723540.2:c.480C>A	XP_006723603.1:p.Ile160=
XM_006723540.3:c.480C>A	XP_006723603.1:p.Ile160=
XM_017027645.1:c.480C>A	XP_016883134.1:p.Ile160=
NM_144628.4:c.666C>A MANE Select	NP_653229.1:p.Ile222=
NR_111901.2:n.794C>A