Canonical Allele Identifier: CA379572758

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1590003163
• gnomAD v4: 11-8101619-G-C
• MyVariant Identifiers: chr11:g.8123166G>C (hg19) ; chr11:g.8101619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101619G>C , CM000673.2:g.8101619G>C	GRCh38
NC_000011.9:g.8123166G>C , CM000673.1:g.8123166G>C	GRCh37
NC_000011.8:g.8079742G>C	NCBI36
NG_029912.1:g.67987G>C
NG_030416.2:g.72425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1521G>C (TUB) MANE Select	ENSP00000299506.3:p.Ter507Tyr
ENST00000299506.2:c.1521G>C (TUB)	ENSP00000299506.2:p.Ter507Tyr
ENST00000305253.8:c.1686G>C (TUB)	ENSP00000305426.4:p.Ter562Tyr
ENST00000534099.5:c.1539G>C (TUB)	ENSP00000434400.1:p.Ter513Tyr
NM_003320.4:c.1686G>C (TUB)	NP_003311.2:p.Ter562Tyr
NM_177972.2:c.1521G>C (TUB)	NP_813977.1:p.Ter507Tyr
XM_005253109.2:c.1647G>C (TUB)	XP_005253166.1:p.Ter549Tyr
XM_011520344.1:c.1557G>C (TUB)	XP_011518646.1:p.Ter519Tyr
XR_428851.2:n.1484-7460C>G (RIC3)
XR_930896.1:n.1546+5716C>G (RIC3)
XR_930900.1:n.1547-3897C>G (RIC3)
NR_144485.1:n.1519+5716C>G (RIC3)
XM_005253109.3:c.1647G>C (TUB)	XP_005253166.1:p.Ter549Tyr
XM_011520344.2:c.1557G>C (TUB)	XP_011518646.1:p.Ter519Tyr
XR_001747957.2:n.1335-7460C>G (RIC3)
XR_428851.4:n.1422-7460C>G (RIC3)
XR_930896.3:n.1484+5716C>G (RIC3)
XR_930900.3:n.1485-3897C>G (RIC3)
NM_177972.3:c.1521G>C (TUB) MANE Select	NP_813977.1:p.Ter507Tyr
NR_144485.2:n.1450+5716C>G (RIC3)
NM_003320.5:c.1686G>C (TUB)	NP_003311.2:p.Ter562Tyr