Canonical Allele Identifier: CA10604748

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 284285
• ClinVar RCV Id: RCV000395433
• dbSNP Id: rs886042837
• MyVariant Identifiers: chr7:g.128610280G>C (hg19) ; chr7:g.128970226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128970226G>C , CM000669.2:g.128970226G>C	GRCh38
NC_000007.13:g.128610280G>C , CM000669.1:g.128610280G>C	GRCh37
NC_000007.12:g.128397516G>C	NCBI36
NG_023428.1:g.89948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265388.10:c.2520C>G MANE Select	ENSP00000265388.5:p.Thr840=
ENST00000265388.9:c.2520C>G	ENSP00000265388.5:p.Thr840=
ENST00000471166.1:c.2622C>G	ENSP00000418267.1:p.Thr874=
ENST00000471234.5:c.2328C>G	ENSP00000418646.1:p.Thr776=
ENST00000482320.5:c.2322C>G	ENSP00000420089.1:p.Thr774=
ENST00000627585.2:c.2622C>G	ENSP00000487231.1:p.Thr874=
NM_001191028.2:c.2328C>G	NP_001177957.2:p.Thr776=
NM_012470.3:c.2520C>G	NP_036602.1:p.Thr840=
NR_034053.2:n.3084C>G
XM_011515989.1:c.2322C>G	XP_011514291.1:p.Thr774=
NM_001191028.3:c.2328C>G	NP_001177957.2:p.Thr776=
NM_001382216.1:c.2622C>G	NP_001369145.1:p.Thr874=
NM_001382217.1:c.2601C>G	NP_001369146.1:p.Thr867=
NM_001382218.1:c.2520C>G	NP_001369147.1:p.Thr840=
NM_001382219.1:c.2412C>G	NP_001369148.1:p.Thr804=
NM_001382220.1:c.2379C>G	NP_001369149.1:p.Thr793=
NM_001382221.1:c.2376C>G	NP_001369150.1:p.Thr792=
NM_001382222.1:c.2373C>G	NP_001369151.1:p.Thr791=
NM_001382223.1:c.2328C>G	NP_001369152.1:p.Thr776=
NM_012470.4:c.2520C>G MANE Select	NP_036602.1:p.Thr840=
NR_034053.3:n.3022C>G
NR_167911.1:n.3109C>G
NR_167912.1:n.2967C>G
NR_167913.1:n.2769C>G
NR_167914.1:n.2929C>G
NR_167915.1:n.3185C>G
NR_167916.1:n.2659C>G
NR_167917.1:n.2692C>G
NR_167918.1:n.3147C>G
NR_167919.1:n.2986C>G
NR_167920.1:n.2945C>G
NR_167921.1:n.3147C>G
NR_167922.1:n.2983C>G
NR_167923.1:n.2784C>G
NR_167924.1:n.2861C>G
NR_167925.1:n.2784C>G
NR_167926.1:n.2795C>G
NR_167927.1:n.3088C>G