Canonical Allele Identifier: CA2579016476

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 2726185
• ClinVar RCV Id: RCV003584044
• gnomAD v4: 7-128972410-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128972410T>C , CM000669.2:g.128972410T>C	GRCh38
NC_000007.13:g.128612464T>C , CM000669.1:g.128612464T>C	GRCh37
NC_000007.12:g.128399700T>C	NCBI36
NG_023428.1:g.87764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265388.10:c.2430+16A>G MANE Select	ENSP00000265388.5:n.2430+16A>G
ENST00000265388.9:c.2430+16A>G	ENSP00000265388.5:n.2430+16A>G
ENST00000471166.1:c.2532+16A>G	ENSP00000418267.1:n.2532+16A>G
ENST00000471234.5:c.2238+16A>G	ENSP00000418646.1:n.2238+16A>G
ENST00000482320.5:c.2232+16A>G	ENSP00000420089.1:n.2232+16A>G
ENST00000627585.2:c.2532+16A>G	ENSP00000487231.1:n.2532+16A>G
NM_001191028.2:c.2238+16A>G	NP_001177957.2:n.2238+16A>G
NM_012470.3:c.2430+16A>G	NP_036602.1:n.2430+16A>G
NR_034053.2:n.2994+16A>G
XM_011515989.1:c.2232+16A>G	XP_011514291.1:n.2232+16A>G
NM_001191028.3:c.2238+16A>G	NP_001177957.2:n.2238+16A>G
NM_001382216.1:c.2532+16A>G	NP_001369145.1:n.2532+16A>G
NM_001382217.1:c.2511+16A>G	NP_001369146.1:n.2511+16A>G
NM_001382218.1:c.2430+16A>G	NP_001369147.1:n.2430+16A>G
NM_001382219.1:c.2322+16A>G	NP_001369148.1:n.2322+16A>G
NM_001382220.1:c.2289+16A>G	NP_001369149.1:n.2289+16A>G
NM_001382221.1:c.2286+16A>G	NP_001369150.1:n.2286+16A>G
NM_001382222.1:c.2283+16A>G	NP_001369151.1:n.2283+16A>G
NM_001382223.1:c.2238+16A>G	NP_001369152.1:n.2238+16A>G
NM_012470.4:c.2430+16A>G MANE Select	NP_036602.1:n.2430+16A>G
NR_034053.3:n.2932+16A>G
NR_167911.1:n.3019+16A>G
NR_167912.1:n.2877+16A>G
NR_167913.1:n.2679+16A>G
NR_167914.1:n.2839+16A>G
NR_167915.1:n.3095+16A>G
NR_167916.1:n.2569+16A>G
NR_167917.1:n.2602+16A>G
NR_167918.1:n.3057+16A>G
NR_167919.1:n.2896+16A>G
NR_167920.1:n.2855+16A>G
NR_167921.1:n.3057+16A>G
NR_167922.1:n.2893+16A>G
NR_167923.1:n.2694+16A>G
NR_167924.1:n.2771+16A>G
NR_167925.1:n.2694+16A>G
NR_167926.1:n.2705+16A>G
NR_167927.1:n.2998+16A>G