Canonical Allele Identifier: CA4477861

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 2136613
• ClinVar RCV Id: RCV003062142
• dbSNP Id: rs587777431
• ExAC: 7:128610347 C / T
• gnomAD v2: 7-128610347-C-T
• gnomAD v3: 7-128970293-C-T
• gnomAD v4: 7-128970293-C-T
• COSMIC: COSM1229970
• MyVariant Identifiers: chr7:g.128610347C>T (hg19) ; chr7:g.128970293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128970293C>T , CM000669.2:g.128970293C>T	GRCh38
NC_000007.13:g.128610347C>T , CM000669.1:g.128610347C>T	GRCh37
NC_000007.12:g.128397583C>T	NCBI36
NG_023428.1:g.89881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265388.10:c.2453G>A MANE Select	ENSP00000265388.5:p.Arg818Gln
ENST00000265388.9:c.2453G>A	ENSP00000265388.5:p.Arg818Gln
ENST00000471166.1:c.2555G>A	ENSP00000418267.1:p.Arg852Gln
ENST00000471234.5:c.2261G>A	ENSP00000418646.1:p.Arg754Gln
ENST00000482320.5:c.2255G>A	ENSP00000420089.1:p.Arg752Gln
ENST00000627585.2:c.2555G>A	ENSP00000487231.1:p.Arg852Gln
NM_001191028.2:c.2261G>A	NP_001177957.2:p.Arg754Gln
NM_012470.3:c.2453G>A	NP_036602.1:p.Arg818Gln
NR_034053.2:n.3017G>A
XM_011515989.1:c.2255G>A	XP_011514291.1:p.Arg752Gln
NM_001191028.3:c.2261G>A	NP_001177957.2:p.Arg754Gln
NM_001382216.1:c.2555G>A	NP_001369145.1:p.Arg852Gln
NM_001382217.1:c.2534G>A	NP_001369146.1:p.Arg845Gln
NM_001382218.1:c.2453G>A	NP_001369147.1:p.Arg818Gln
NM_001382219.1:c.2345G>A	NP_001369148.1:p.Arg782Gln
NM_001382220.1:c.2312G>A	NP_001369149.1:p.Arg771Gln
NM_001382221.1:c.2309G>A	NP_001369150.1:p.Arg770Gln
NM_001382222.1:c.2306G>A	NP_001369151.1:p.Arg769Gln
NM_001382223.1:c.2261G>A	NP_001369152.1:p.Arg754Gln
NM_012470.4:c.2453G>A MANE Select	NP_036602.1:p.Arg818Gln
NR_034053.3:n.2955G>A
NR_167911.1:n.3042G>A
NR_167912.1:n.2900G>A
NR_167913.1:n.2702G>A
NR_167914.1:n.2862G>A
NR_167915.1:n.3118G>A
NR_167916.1:n.2592G>A
NR_167917.1:n.2625G>A
NR_167918.1:n.3080G>A
NR_167919.1:n.2919G>A
NR_167920.1:n.2878G>A
NR_167921.1:n.3080G>A
NR_167922.1:n.2916G>A
NR_167923.1:n.2717G>A
NR_167924.1:n.2794G>A
NR_167925.1:n.2717G>A
NR_167926.1:n.2728G>A
NR_167927.1:n.3021G>A