Canonical Allele Identifier: CA9723563

Gene: TBC1D20

Linked Data

• dbSNP Id: rs776493264
• ExAC: 20:420996 T / A
• gnomAD v2: 20-420996-T-A
• gnomAD v4: 20-440352-T-A
• MyVariant Identifiers: chr20:g.420996T>A (hg19) ; chr20:g.440352T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440352T>A , CM000682.2:g.440352T>A	GRCh38
NC_000020.10:g.420996T>A , CM000682.1:g.420996T>A	GRCh37
NC_000020.9:g.368996T>A	NCBI36
NG_034082.1:g.27202A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.664A>T MANE Select	ENSP00000346139.4:p.Ile222Phe
ENST00000461188.6:n.1904A>T
ENST00000679451.1:n.893-35A>T
ENST00000679741.1:c.664A>T	ENSP00000504904.1:p.Ile222Phe
ENST00000679895.1:c.760A>T	ENSP00000505197.1:p.Ile254Phe
ENST00000679944.1:c.664A>T	ENSP00000506278.1:p.Ile222Phe
ENST00000679953.1:n.1553A>T
ENST00000679973.1:c.627-35A>T	ENSP00000506502.1:n.627-35A>T
ENST00000680050.1:c.478A>T	ENSP00000505464.1:p.Ile160Phe
ENST00000680088.1:n.809A>T
ENST00000680106.1:c.664A>T	ENSP00000505500.1:p.Ile222Phe
ENST00000680284.1:c.664A>T	ENSP00000506231.1:p.Ile222Phe
ENST00000680491.1:n.2155A>T
ENST00000680515.1:c.478A>T	ENSP00000506650.1:p.Ile160Phe
ENST00000680521.1:n.2128A>T
ENST00000680792.1:c.664A>T	ENSP00000506012.1:p.Ile222Phe
ENST00000680815.1:n.3624A>T
ENST00000680911.1:c.627-35A>T	ENSP00000506556.1:n.627-35A>T
ENST00000680990.1:c.*436A>T	ENSP00000506050.1:n.*436A>T
ENST00000681129.1:c.478A>T	ENSP00000505329.1:p.Ile160Phe
ENST00000681193.1:n.2906A>T
ENST00000681389.1:n.1996A>T
ENST00000681414.1:c.583A>T	ENSP00000505797.1:p.Ile195Phe
ENST00000681441.1:c.*208A>T	ENSP00000504992.1:n.*208A>T
ENST00000681539.1:c.664A>T	ENSP00000505557.1:p.Ile222Phe
ENST00000681551.1:c.664A>T	ENSP00000504974.1:p.Ile222Phe
ENST00000681636.1:c.664A>T	ENSP00000506155.1:p.Ile222Phe
ENST00000681742.1:c.664A>T	ENSP00000506122.1:p.Ile222Phe
ENST00000681777.1:c.*32A>T	ENSP00000506511.1:n.*32A>T
ENST00000354200.4:c.664A>T	ENSP00000346139.4:p.Ile222Phe
ENST00000461188.5:n.1541A>T
ENST00000461304.5:c.664A>T	ENSP00000432280.1:p.Ile222Phe
ENST00000494633.1:n.969A>T
NM_144628.3:c.664A>T	NP_653229.1:p.Ile222Phe
NR_111901.1:n.812A>T
XM_005260661.1:c.664A>T	XP_005260718.1:p.Ile222Phe
XM_006723540.2:c.478A>T	XP_006723603.1:p.Ile160Phe
XM_006723540.3:c.478A>T	XP_006723603.1:p.Ile160Phe
XM_017027645.1:c.478A>T	XP_016883134.1:p.Ile160Phe
NM_144628.4:c.664A>T MANE Select	NP_653229.1:p.Ile222Phe
NR_111901.2:n.792A>T