Canonical Allele Identifier: CA5871532

Gene: TUB RIC3

Linked Data

• ClinVar Variation Id: 933300
• ClinVar RCV Id: RCV001201481 ; RCV002468187 ; RCV003393878
• dbSNP Id: rs368907491
• ExAC: 11:8123143 G / A
• gnomAD v2: 11-8123143-G-A
• gnomAD v3: 11-8101596-G-A
• gnomAD v4: 11-8101596-G-A
• COSMIC: COSM3416274
• MyVariant Identifiers: chr11:g.8123143G>A (hg19) ; chr11:g.8101596G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101596G>A , CM000673.2:g.8101596G>A	GRCh38
NC_000011.9:g.8123143G>A , CM000673.1:g.8123143G>A	GRCh37
NC_000011.8:g.8079719G>A	NCBI36
NG_029912.1:g.67964G>A
NG_030416.2:g.72448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1498G>A (TUB) MANE Select	ENSP00000299506.3:p.Asp500Asn
ENST00000299506.2:c.1498G>A (TUB)	ENSP00000299506.2:p.Asp500Asn
ENST00000305253.8:c.1663G>A (TUB)	ENSP00000305426.4:p.Asp555Asn
ENST00000534099.5:c.1516G>A (TUB)	ENSP00000434400.1:p.Asp506Asn
NM_003320.4:c.1663G>A (TUB)	NP_003311.2:p.Asp555Asn
NM_177972.2:c.1498G>A (TUB)	NP_813977.1:p.Asp500Asn
XM_005253109.2:c.1624G>A (TUB)	XP_005253166.1:p.Asp542Asn
XM_011520344.1:c.1534G>A (TUB)	XP_011518646.1:p.Asp512Asn
XR_428851.2:n.1484-7437C>T (RIC3)
XR_930896.1:n.1546+5739C>T (RIC3)
XR_930900.1:n.1547-3874C>T (RIC3)
NR_144485.1:n.1519+5739C>T (RIC3)
XM_005253109.3:c.1624G>A (TUB)	XP_005253166.1:p.Asp542Asn
XM_011520344.2:c.1534G>A (TUB)	XP_011518646.1:p.Asp512Asn
XR_001747957.2:n.1335-7437C>T (RIC3)
XR_428851.4:n.1422-7437C>T (RIC3)
XR_930896.3:n.1484+5739C>T (RIC3)
XR_930900.3:n.1485-3874C>T (RIC3)
NM_177972.3:c.1498G>A (TUB) MANE Select	NP_813977.1:p.Asp500Asn
NR_144485.2:n.1450+5739C>T (RIC3)
NM_003320.5:c.1663G>A (TUB)	NP_003311.2:p.Asp555Asn