Canonical Allele Identifier: CA379572716

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123147G>C (hg19) ; chr11:g.8101600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101600G>C , CM000673.2:g.8101600G>C	GRCh38
NC_000011.9:g.8123147G>C , CM000673.1:g.8123147G>C	GRCh37
NC_000011.8:g.8079723G>C	NCBI36
NG_029912.1:g.67968G>C
NG_030416.2:g.72444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1502G>C (TUB) MANE Select	ENSP00000299506.3:p.Ser501Thr
ENST00000299506.2:c.1502G>C (TUB)	ENSP00000299506.2:p.Ser501Thr
ENST00000305253.8:c.1667G>C (TUB)	ENSP00000305426.4:p.Ser556Thr
ENST00000534099.5:c.1520G>C (TUB)	ENSP00000434400.1:p.Ser507Thr
NM_003320.4:c.1667G>C (TUB)	NP_003311.2:p.Ser556Thr
NM_177972.2:c.1502G>C (TUB)	NP_813977.1:p.Ser501Thr
XM_005253109.2:c.1628G>C (TUB)	XP_005253166.1:p.Ser543Thr
XM_011520344.1:c.1538G>C (TUB)	XP_011518646.1:p.Ser513Thr
XR_428851.2:n.1484-7441C>G (RIC3)
XR_930896.1:n.1546+5735C>G (RIC3)
XR_930900.1:n.1547-3878C>G (RIC3)
NR_144485.1:n.1519+5735C>G (RIC3)
XM_005253109.3:c.1628G>C (TUB)	XP_005253166.1:p.Ser543Thr
XM_011520344.2:c.1538G>C (TUB)	XP_011518646.1:p.Ser513Thr
XR_001747957.2:n.1335-7441C>G (RIC3)
XR_428851.4:n.1422-7441C>G (RIC3)
XR_930896.3:n.1484+5735C>G (RIC3)
XR_930900.3:n.1485-3878C>G (RIC3)
NM_177972.3:c.1502G>C (TUB) MANE Select	NP_813977.1:p.Ser501Thr
NR_144485.2:n.1450+5735C>G (RIC3)
NM_003320.5:c.1667G>C (TUB)	NP_003311.2:p.Ser556Thr