Canonical Allele Identifier: CA52812764

Gene: TBC1D8 RPL31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101018825C>T , CM000664.2:g.101018825C>T	GRCh38
NC_000002.11:g.101635287C>T , CM000664.1:g.101635287C>T	GRCh37
NC_000002.10:g.101001719C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001330348.2:c.2827+2856G>A (TBC1D8) MANE Select	NP_001317277.1:n.2827+2856G>A
ENST00000409318.2:c.2827+2856G>A (TBC1D8) MANE Select	ENSP00000386856.1:n.2827+2856G>A
NM_001098577.2:c.347-173C>T (RPL31)	NP_001092047.1:n.347-173C>T
NM_001098577.3:c.347-173C>T (RPL31)	NP_001092047.1:n.347-173C>T
NM_001102426.1:c.2782+2856G>A (TBC1D8)	NP_001095896.1:n.2782+2856G>A
NM_001102426.2:c.2782+2856G>A (TBC1D8)	NP_001095896.1:n.2782+2856G>A
NM_001102426.3:c.2782+2856G>A (TBC1D8)	NP_001095896.1:n.2782+2856G>A
NM_001330348.1:c.2827+2856G>A (TBC1D8)	NP_001317277.1:n.2827+2856G>A
NR_138475.1:n.2858+2856G>A (TBC1D8)
NR_138475.2:n.2793+2856G>A (TBC1D8)
ENST00000376840.8:c.2782+2856G>A (TBC1D8)	ENSP00000366036.4:n.2782+2856G>A
ENST00000409028.8:c.347-173C>T (RPL31)	ENSP00000386717.3:n.347-173C>T
ENST00000409318.1:c.2827+2856G>A (TBC1D8)	ENSP00000386856.1:n.2827+2856G>A
ENST00000441435.1:c.310-4800C>T (RPL31)
ENST00000494011.1:n.159+2856G>A (TBC1D8)
XM_005263862.2:c.2848+2856G>A (TBC1D8)	XP_005263919.1:n.2848+2856G>A
XM_005263862.4:c.2848+2856G>A (TBC1D8)	XP_005263919.1:n.2848+2856G>A
XM_005263863.3:c.2827+2856G>A (TBC1D8)	XP_005263920.1:n.2827+2856G>A
XM_005263864.2:c.2803+2856G>A (TBC1D8)	XP_005263921.1:n.2803+2856G>A
XM_005263864.4:c.2803+2856G>A (TBC1D8)	XP_005263921.1:n.2803+2856G>A
XM_011510506.1:c.2821+2856G>A (TBC1D8)	XP_011508808.1:n.2821+2856G>A
XM_011510507.1:c.2764+2856G>A (TBC1D8)	XP_011508809.1:n.2764+2856G>A
XM_011510507.2:c.2764+2856G>A (TBC1D8)	XP_011508809.1:n.2764+2856G>A
XM_017003198.2:c.2743+2856G>A (TBC1D8)	XP_016858687.1:n.2743+2856G>A
XM_017003199.2:c.2698+2856G>A (TBC1D8)	XP_016858688.1:n.2698+2856G>A