Canonical Allele Identifier: CA379568552

Gene: TUB RIC3

Linked Data

• ClinVar Variation Id: 1053687
• ClinVar RCV Id: RCV001362062 ; RCV003227965 ; RCV004036822
• dbSNP Id: rs1944038804
• gnomAD v4: 11-8097268-C-T
• MyVariant Identifiers: chr11:g.8118815C>T (hg19) ; chr11:g.8097268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8097268C>T , CM000673.2:g.8097268C>T	GRCh38
NC_000011.9:g.8118815C>T , CM000673.1:g.8118815C>T	GRCh37
NC_000011.8:g.8075391C>T	NCBI36
NG_029912.1:g.63636C>T
NG_030416.2:g.76776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.728C>T (TUB) MANE Select	ENSP00000299506.3:p.Pro243Leu
ENST00000299506.2:c.728C>T (TUB)	ENSP00000299506.2:p.Pro243Leu
ENST00000305253.8:c.893C>T (TUB)	ENSP00000305426.4:p.Pro298Leu
ENST00000534099.5:c.746C>T (TUB)	ENSP00000434400.1:p.Pro249Leu
NM_003320.4:c.893C>T (TUB)	NP_003311.2:p.Pro298Leu
NM_177972.2:c.728C>T (TUB)	NP_813977.1:p.Pro243Leu
XM_005253109.2:c.854C>T (TUB)	XP_005253166.1:p.Pro285Leu
XM_011520344.1:c.764C>T (TUB)	XP_011518646.1:p.Pro255Leu
XR_428851.2:n.1484-3109G>A (RIC3)
XR_930896.1:n.1547-3109G>A (RIC3)
NR_144485.1:n.1520-3109G>A (RIC3)
XM_005253109.3:c.854C>T (TUB)	XP_005253166.1:p.Pro285Leu
XM_011520344.2:c.764C>T (TUB)	XP_011518646.1:p.Pro255Leu
XR_001747957.2:n.1335-3109G>A (RIC3)
XR_428851.4:n.1422-3109G>A (RIC3)
XR_930896.3:n.1485-3109G>A (RIC3)
NM_177972.3:c.728C>T (TUB) MANE Select	NP_813977.1:p.Pro243Leu
NR_144485.2:n.1451-3109G>A (RIC3)
NM_003320.5:c.893C>T (TUB)	NP_003311.2:p.Pro298Leu