Canonical Allele Identifier: CA6670190

Gene: TBC1D30

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64875267G>A , CM000674.2:g.64875267G>A	GRCh38
NC_000012.11:g.65269047G>A , CM000674.1:g.65269047G>A	GRCh37
NC_000012.10:g.63555314G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539867.6:c.1765G>A MANE Select	ENSP00000440207.1:p.Val589Ile
ENST00000542120.6:c.2254G>A	ENSP00000440640.2:p.Val752Ile
ENST00000674171.1:c.1668G>A
ENST00000674237.1:c.1423G>A	ENSP00000501371.1:p.Val475Ile
ENST00000674281.1:c.1423G>A	ENSP00000501395.1:p.Val475Ile
ENST00000539867.5:c.1765G>A	ENSP00000440207.1:p.Val589Ile
ENST00000542120.5:c.1423G>A	ENSP00000440640.1:p.Val475Ile
NM_015279.1:c.1765G>A	NP_056094.1:p.Val589Ile
XM_011538078.1:c.1825G>A	XP_011536380.1:p.Val609Ile
NM_001330186.1:c.1693G>A	NP_001317115.1:p.Val565Ile
NM_001330187.1:c.1423G>A	NP_001317116.1:p.Val475Ile
NM_001330188.1:c.1423G>A	NP_001317117.1:p.Val475Ile
NM_001364838.1:c.1423G>A	NP_001351767.1:p.Val475Ile
XM_011538078.2:c.1825G>A	XP_011536380.1:p.Val609Ile
XM_017019084.1:c.1483G>A	XP_016874573.1:p.Val495Ile
XM_017019087.2:c.1423G>A	XP_016874576.1:p.Val475Ile
XM_024448901.1:c.2314G>A	XP_024304669.1:p.Val772Ile
XM_024448902.1:c.2254G>A	XP_024304670.1:p.Val752Ile
XM_024448903.1:c.2182G>A	XP_024304671.1:p.Val728Ile
XM_024448904.1:c.1483G>A	XP_024304672.1:p.Val495Ile
NM_001330186.2:c.1693G>A	NP_001317115.1:p.Val565Ile
NM_001330188.2:c.1423G>A	NP_001317117.1:p.Val475Ile
NM_001364838.2:c.1423G>A	NP_001351767.1:p.Val475Ile
NM_015279.2:c.1765G>A MANE Select	NP_056094.1:p.Val589Ile
NM_001330187.2:c.1423G>A	NP_001317116.1:p.Val475Ile