Canonical Allele Identifier: CA379572695

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123138G>T (hg19) ; chr11:g.8101591G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101591G>T , CM000673.2:g.8101591G>T	GRCh38
NC_000011.9:g.8123138G>T , CM000673.1:g.8123138G>T	GRCh37
NC_000011.8:g.8079714G>T	NCBI36
NG_029912.1:g.67959G>T
NG_030416.2:g.72453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1493G>T (TUB) MANE Select	ENSP00000299506.3:p.Ser498Ile
ENST00000299506.2:c.1493G>T (TUB)	ENSP00000299506.2:p.Ser498Ile
ENST00000305253.8:c.1658G>T (TUB)	ENSP00000305426.4:p.Ser553Ile
ENST00000534099.5:c.1511G>T (TUB)	ENSP00000434400.1:p.Ser504Ile
NM_003320.4:c.1658G>T (TUB)	NP_003311.2:p.Ser553Ile
NM_177972.2:c.1493G>T (TUB)	NP_813977.1:p.Ser498Ile
XM_005253109.2:c.1619G>T (TUB)	XP_005253166.1:p.Ser540Ile
XM_011520344.1:c.1529G>T (TUB)	XP_011518646.1:p.Ser510Ile
XR_428851.2:n.1484-7432C>A (RIC3)
XR_930896.1:n.1546+5744C>A (RIC3)
XR_930900.1:n.1547-3869C>A (RIC3)
NR_144485.1:n.1519+5744C>A (RIC3)
XM_005253109.3:c.1619G>T (TUB)	XP_005253166.1:p.Ser540Ile
XM_011520344.2:c.1529G>T (TUB)	XP_011518646.1:p.Ser510Ile
XR_001747957.2:n.1335-7432C>A (RIC3)
XR_428851.4:n.1422-7432C>A (RIC3)
XR_930896.3:n.1484+5744C>A (RIC3)
XR_930900.3:n.1485-3869C>A (RIC3)
NM_177972.3:c.1493G>T (TUB) MANE Select	NP_813977.1:p.Ser498Ile
NR_144485.2:n.1450+5744C>A (RIC3)
NM_003320.5:c.1658G>T (TUB)	NP_003311.2:p.Ser553Ile