Canonical Allele Identifier: CA509319131

Gene: TBC1D20

Linked Data

• gnomAD v4: 20-440353-G-C
• MyVariant Identifiers: chr20:g.420997G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.440353G>C , CM000682.2:g.440353G>C	GRCh38
NC_000020.10:g.420997G>C , CM000682.1:g.420997G>C	GRCh37
NC_000020.9:g.368997G>C	NCBI36
NG_034082.1:g.27201C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354200.5:c.663C>G MANE Select	ENSP00000346139.4:p.Leu221=
ENST00000461188.6:n.1903C>G
ENST00000679451.1:n.893-36C>G
ENST00000679741.1:c.663C>G	ENSP00000504904.1:p.Leu221=
ENST00000679895.1:c.759C>G	ENSP00000505197.1:p.Leu253=
ENST00000679944.1:c.663C>G	ENSP00000506278.1:p.Leu221=
ENST00000679953.1:n.1552C>G
ENST00000679973.1:c.627-36C>G	ENSP00000506502.1:n.627-36C>G
ENST00000680050.1:c.477C>G	ENSP00000505464.1:p.Leu159=
ENST00000680088.1:n.808C>G
ENST00000680106.1:c.663C>G	ENSP00000505500.1:p.Leu221=
ENST00000680284.1:c.663C>G	ENSP00000506231.1:p.Leu221=
ENST00000680491.1:n.2154C>G
ENST00000680515.1:c.477C>G	ENSP00000506650.1:p.Leu159=
ENST00000680521.1:n.2127C>G
ENST00000680792.1:c.663C>G	ENSP00000506012.1:p.Leu221=
ENST00000680815.1:n.3623C>G
ENST00000680911.1:c.627-36C>G	ENSP00000506556.1:n.627-36C>G
ENST00000680990.1:c.*435C>G	ENSP00000506050.1:n.*435C>G
ENST00000681129.1:c.477C>G	ENSP00000505329.1:p.Leu159=
ENST00000681193.1:n.2905C>G
ENST00000681389.1:n.1995C>G
ENST00000681414.1:c.582C>G	ENSP00000505797.1:p.Leu194=
ENST00000681441.1:c.*207C>G	ENSP00000504992.1:n.*207C>G
ENST00000681539.1:c.663C>G	ENSP00000505557.1:p.Leu221=
ENST00000681551.1:c.663C>G	ENSP00000504974.1:p.Leu221=
ENST00000681636.1:c.663C>G	ENSP00000506155.1:p.Leu221=
ENST00000681742.1:c.663C>G	ENSP00000506122.1:p.Leu221=
ENST00000681777.1:c.*31C>G	ENSP00000506511.1:n.*31C>G
ENST00000354200.4:c.663C>G	ENSP00000346139.4:p.Leu221=
ENST00000461188.5:n.1540C>G
ENST00000461304.5:c.663C>G	ENSP00000432280.1:p.Leu221=
ENST00000494633.1:n.968C>G
NM_144628.3:c.663C>G	NP_653229.1:p.Leu221=
NR_111901.1:n.811C>G
XM_005260661.1:c.663C>G	XP_005260718.1:p.Leu221=
XM_006723540.2:c.477C>G	XP_006723603.1:p.Leu159=
XM_006723540.3:c.477C>G	XP_006723603.1:p.Leu159=
XM_017027645.1:c.477C>G	XP_016883134.1:p.Leu159=
NM_144628.4:c.663C>G MANE Select	NP_653229.1:p.Leu221=
NR_111901.2:n.791C>G