Canonical Allele Identifier: CA379572726

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123151G>C (hg19) ; chr11:g.8101604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101604G>C , CM000673.2:g.8101604G>C	GRCh38
NC_000011.9:g.8123151G>C , CM000673.1:g.8123151G>C	GRCh37
NC_000011.8:g.8079727G>C	NCBI36
NG_029912.1:g.67972G>C
NG_030416.2:g.72440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1506G>C (TUB) MANE Select	ENSP00000299506.3:p.Lys502Asn
ENST00000299506.2:c.1506G>C (TUB)	ENSP00000299506.2:p.Lys502Asn
ENST00000305253.8:c.1671G>C (TUB)	ENSP00000305426.4:p.Lys557Asn
ENST00000534099.5:c.1524G>C (TUB)	ENSP00000434400.1:p.Lys508Asn
NM_003320.4:c.1671G>C (TUB)	NP_003311.2:p.Lys557Asn
NM_177972.2:c.1506G>C (TUB)	NP_813977.1:p.Lys502Asn
XM_005253109.2:c.1632G>C (TUB)	XP_005253166.1:p.Lys544Asn
XM_011520344.1:c.1542G>C (TUB)	XP_011518646.1:p.Lys514Asn
XR_428851.2:n.1484-7445C>G (RIC3)
XR_930896.1:n.1546+5731C>G (RIC3)
XR_930900.1:n.1547-3882C>G (RIC3)
NR_144485.1:n.1519+5731C>G (RIC3)
XM_005253109.3:c.1632G>C (TUB)	XP_005253166.1:p.Lys544Asn
XM_011520344.2:c.1542G>C (TUB)	XP_011518646.1:p.Lys514Asn
XR_001747957.2:n.1335-7445C>G (RIC3)
XR_428851.4:n.1422-7445C>G (RIC3)
XR_930896.3:n.1484+5731C>G (RIC3)
XR_930900.3:n.1485-3882C>G (RIC3)
NM_177972.3:c.1506G>C (TUB) MANE Select	NP_813977.1:p.Lys502Asn
NR_144485.2:n.1450+5731C>G (RIC3)
NM_003320.5:c.1671G>C (TUB)	NP_003311.2:p.Lys557Asn