Canonical Allele Identifier: CA1805096

Gene: TBC1D8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101037627C>T , CM000664.2:g.101037627C>T	GRCh38
NC_000002.11:g.101654089C>T , CM000664.1:g.101654089C>T	GRCh37
NC_000002.10:g.101020521C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001330348.2:c.1357G>A MANE Select	NP_001317277.1:p.Glu453Lys
ENST00000409318.2:c.1357G>A MANE Select	ENSP00000386856.1:p.Glu453Lys
NM_001102426.1:c.1312G>A	NP_001095896.1:p.Glu438Lys
NM_001102426.2:c.1312G>A	NP_001095896.1:p.Glu438Lys
NM_001102426.3:c.1312G>A	NP_001095896.1:p.Glu438Lys
NM_001330348.1:c.1357G>A	NP_001317277.1:p.Glu453Lys
NR_138475.1:n.1506G>A
NR_138475.2:n.1441G>A
ENST00000376840.8:c.1312G>A	ENSP00000366036.4:p.Glu438Lys
ENST00000409318.1:c.1357G>A	ENSP00000386856.1:p.Glu453Lys
XM_005263862.2:c.1378G>A	XP_005263919.1:p.Glu460Lys
XM_005263862.4:c.1378G>A	XP_005263919.1:p.Glu460Lys
XM_005263863.3:c.1357G>A	XP_005263920.1:p.Glu453Lys
XM_005263864.2:c.1333G>A	XP_005263921.1:p.Glu445Lys
XM_005263864.4:c.1333G>A	XP_005263921.1:p.Glu445Lys
XM_011510506.1:c.1351G>A	XP_011508808.1:p.Glu451Lys
XM_011510507.1:c.1294G>A	XP_011508809.1:p.Glu432Lys
XM_011510507.2:c.1294G>A	XP_011508809.1:p.Glu432Lys
XM_011510508.1:c.1357G>A	XP_011508810.1:p.Glu453Lys
XM_011510508.3:c.1357G>A	XP_011508810.1:p.Glu453Lys
XM_017003198.2:c.1378G>A	XP_016858687.1:p.Glu460Lys
XM_017003199.2:c.1333G>A	XP_016858688.1:p.Glu445Lys
XM_017003200.2:c.1378G>A	XP_016858689.1:p.Glu460Lys
XM_017003201.2:c.1378G>A	XP_016858690.1:p.Glu460Lys
XM_017003202.2:c.1378G>A	XP_016858691.1:p.Glu460Lys