Canonical Allele Identifier: CA249570

Gene: TRNT1 CRBN

Linked Data

• ClinVar Variation Id: 157614
• ClinVar RCV Id: RCV000144947 ; RCV000734561 ; RCV003415973
• dbSNP Id: rs370011798
• ExAC: 3:3188173 T / C
• gnomAD v2: 3-3188173-T-C
• gnomAD v3: 3-3146489-T-C
• gnomAD v4: 3-3146489-T-C
• MyVariant Identifiers: chr3:g.3188173T>C (hg19) ; chr3:g.3146489T>C (hg38)
• PubMed: PMID:25193871

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.3146489T>C , CM000665.2:g.3146489T>C	GRCh38
NC_000003.11:g.3188173T>C , CM000665.1:g.3188173T>C	GRCh37
NC_000003.10:g.3163173T>C	NCBI36
NG_041800.1:g.24574T>C
NG_041800.2:g.24574T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698406.1:c.668T>C (TRNT1)	ENSP00000513700.1:p.Ile223Thr
ENST00000698407.1:n.1297T>C (TRNT1)
ENST00000698408.1:c.668T>C (TRNT1)	ENSP00000513701.1:p.Ile223Thr
ENST00000698410.1:c.*139T>C (TRNT1)	ENSP00000513703.1:n.*139T>C
ENST00000698412.1:c.668T>C (TRNT1)	ENSP00000513705.1:p.Ile223Thr
ENST00000698413.1:c.785T>C (TRNT1)	ENSP00000513706.1:p.Ile262Thr
ENST00000698414.1:c.785T>C (TRNT1)	ENSP00000513707.1:p.Ile262Thr
ENST00000698415.1:n.2029T>C (TRNT1)
ENST00000698416.1:n.932T>C (TRNT1)
ENST00000251607.11:c.668T>C (TRNT1) MANE Select	ENSP00000251607.6:p.Ile223Thr
ENST00000639284.1:c.1312-990A>G (CRBN)	ENSP00000491442.1:n.1312-990A>G
ENST00000650755.1:c.*318T>C (TRNT1)	ENSP00000499122.1:n.*318T>C
ENST00000650814.1:c.368T>C (TRNT1)
ENST00000650839.1:c.*40T>C (TRNT1)	ENSP00000498970.1:n.*40T>C
ENST00000650989.1:n.350-961T>C (TRNT1)
ENST00000651093.1:c.609-961T>C (TRNT1)	ENSP00000498942.1:n.609-961T>C
ENST00000651316.1:c.*148-961T>C (TRNT1)	ENSP00000498787.1:n.*148-961T>C
ENST00000651352.1:c.*139T>C (TRNT1)	ENSP00000498449.1:n.*139T>C
ENST00000651591.1:c.*533-961T>C (TRNT1)	ENSP00000498240.1:n.*533-961T>C
ENST00000652340.1:c.461T>C (TRNT1)	ENSP00000498624.1:n.461T>C
ENST00000251607.10:c.668T>C (TRNT1)	ENSP00000251607.6:p.Ile223Thr
ENST00000280591.10:c.668T>C (TRNT1)	ENSP00000280591.6:p.Ile223Thr
ENST00000434583.5:c.668T>C (TRNT1)	ENSP00000415100.1:p.Ile223Thr
NM_001302946.1:c.668T>C (TRNT1)	NP_001289875.1:p.Ile223Thr
NM_182916.2:c.668T>C (TRNT1)	NP_886552.2:p.Ile223Thr
XM_005265196.1:c.668T>C (TRNT1)	XP_005265253.1:p.Ile223Thr
XM_011533776.1:c.668T>C (TRNT1)	XP_011532078.1:p.Ile223Thr
XM_011533777.1:c.668T>C (TRNT1)	XP_011532079.1:p.Ile223Thr
XM_011533778.1:c.668T>C (TRNT1)	XP_011532080.1:p.Ile223Thr
XR_940445.1:n.770T>C (TRNT1)
XR_940446.1:n.770T>C (TRNT1)
XM_011533776.3:c.668T>C (TRNT1)	XP_011532078.1:p.Ile223Thr
XM_011533777.2:c.668T>C (TRNT1)	XP_011532079.1:p.Ile223Thr
XM_011533778.3:c.668T>C (TRNT1)	XP_011532080.1:p.Ile223Thr
XR_001740168.2:n.749T>C (TRNT1)
XR_001740169.2:n.749T>C (TRNT1)
XR_940445.3:n.749T>C (TRNT1)
XR_940446.3:n.749T>C (TRNT1)
NM_001302946.2:c.668T>C (TRNT1)	NP_001289875.2:p.Ile223Thr
NM_001367321.1:c.668T>C (TRNT1)	NP_001354250.1:p.Ile223Thr
NM_001367322.1:c.668T>C (TRNT1)	NP_001354251.1:p.Ile223Thr
NM_001367323.1:c.668T>C (TRNT1)	NP_001354252.1:p.Ile223Thr
NM_182916.3:c.668T>C (TRNT1) MANE Select	NP_886552.3:p.Ile223Thr
NR_159934.1:n.746T>C (TRNT1)
NR_159935.1:n.746T>C (TRNT1)
NR_159936.1:n.687-961T>C (TRNT1)
NR_159937.1:n.1788T>C (TRNT1)
NR_159938.1:n.687-961T>C (TRNT1)
NR_159939.1:n.607T>C (TRNT1)
NR_159940.1:n.621T>C (TRNT1)
NR_159941.1:n.1788T>C (TRNT1)