Canonical Allele Identifier: CA379572732

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123153T>G (hg19) ; chr11:g.8101606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101606T>G , CM000673.2:g.8101606T>G	GRCh38
NC_000011.9:g.8123153T>G , CM000673.1:g.8123153T>G	GRCh37
NC_000011.8:g.8079729T>G	NCBI36
NG_029912.1:g.67974T>G
NG_030416.2:g.72438A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1508T>G (TUB) MANE Select	ENSP00000299506.3:p.Leu503Arg
ENST00000299506.2:c.1508T>G (TUB)	ENSP00000299506.2:p.Leu503Arg
ENST00000305253.8:c.1673T>G (TUB)	ENSP00000305426.4:p.Leu558Arg
ENST00000534099.5:c.1526T>G (TUB)	ENSP00000434400.1:p.Leu509Arg
NM_003320.4:c.1673T>G (TUB)	NP_003311.2:p.Leu558Arg
NM_177972.2:c.1508T>G (TUB)	NP_813977.1:p.Leu503Arg
XM_005253109.2:c.1634T>G (TUB)	XP_005253166.1:p.Leu545Arg
XM_011520344.1:c.1544T>G (TUB)	XP_011518646.1:p.Leu515Arg
XR_428851.2:n.1484-7447A>C (RIC3)
XR_930896.1:n.1546+5729A>C (RIC3)
XR_930900.1:n.1547-3884A>C (RIC3)
NR_144485.1:n.1519+5729A>C (RIC3)
XM_005253109.3:c.1634T>G (TUB)	XP_005253166.1:p.Leu545Arg
XM_011520344.2:c.1544T>G (TUB)	XP_011518646.1:p.Leu515Arg
XR_001747957.2:n.1335-7447A>C (RIC3)
XR_428851.4:n.1422-7447A>C (RIC3)
XR_930896.3:n.1484+5729A>C (RIC3)
XR_930900.3:n.1485-3884A>C (RIC3)
NM_177972.3:c.1508T>G (TUB) MANE Select	NP_813977.1:p.Leu503Arg
NR_144485.2:n.1450+5729A>C (RIC3)
NM_003320.5:c.1673T>G (TUB)	NP_003311.2:p.Leu558Arg