Canonical Allele Identifier: CA1804489

Gene: TBC1D8 RPL31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101011463C>T , CM000664.2:g.101011463C>T	GRCh38
NC_000002.11:g.101627925C>T , CM000664.1:g.101627925C>T	GRCh37
NC_000002.10:g.100994357C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409318.2:c.2905G>A (TBC1D8) MANE Select	ENSP00000386856.1:p.Gly969Arg
ENST00000376840.8:c.2860G>A (TBC1D8)	ENSP00000366036.4:p.Gly954Arg
ENST00000409028.8:c.346+5392C>T (RPL31)	ENSP00000386717.3:n.346+5392C>T
ENST00000409038.5:c.346+5392C>T (RPL31)	ENSP00000386737.1:n.346+5392C>T
ENST00000409318.1:c.2905G>A (TBC1D8)	ENSP00000386856.1:p.Gly969Arg
ENST00000409650.5:c.346+5392C>T (RPL31)	ENSP00000386271.1:n.346+5392C>T
ENST00000441435.1:c.309+5392C>T (RPL31)
ENST00000494011.1:n.237G>A (TBC1D8)
NM_001098577.2:c.346+5392C>T (RPL31)	NP_001092047.1:n.346+5392C>T
NM_001102426.1:c.2860G>A (TBC1D8)	NP_001095896.1:p.Gly954Arg
XM_005263862.2:c.2926G>A (TBC1D8)	XP_005263919.1:p.Gly976Arg
XM_005263863.3:c.2905G>A (TBC1D8)	XP_005263920.1:p.Gly969Arg
XM_005263864.2:c.2881G>A (TBC1D8)	XP_005263921.1:p.Gly961Arg
XM_011510506.1:c.2899G>A (TBC1D8)	XP_011508808.1:p.Gly967Arg
XM_011510507.1:c.2842G>A (TBC1D8)	XP_011508809.1:p.Gly948Arg
NM_001102426.2:c.2860G>A (TBC1D8)	NP_001095896.1:p.Gly954Arg
NM_001330348.1:c.2905G>A (TBC1D8)	NP_001317277.1:p.Gly969Arg
NR_138475.1:n.2936G>A (TBC1D8)
XM_005263862.4:c.2926G>A (TBC1D8)	XP_005263919.1:p.Gly976Arg
XM_005263864.4:c.2881G>A (TBC1D8)	XP_005263921.1:p.Gly961Arg
XM_011510507.2:c.2842G>A (TBC1D8)	XP_011508809.1:p.Gly948Arg
XM_017003198.2:c.2821G>A (TBC1D8)	XP_016858687.1:p.Gly941Arg
XM_017003199.2:c.2776G>A (TBC1D8)	XP_016858688.1:p.Gly926Arg
NM_001098577.3:c.346+5392C>T (RPL31)	NP_001092047.1:n.346+5392C>T
NM_001102426.3:c.2860G>A (TBC1D8)	NP_001095896.1:p.Gly954Arg
NM_001330348.2:c.2905G>A (TBC1D8) MANE Select	NP_001317277.1:p.Gly969Arg
NR_138475.2:n.2871G>A (TBC1D8)