Canonical Allele Identifier: CA4478128

Gene: TNPO3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128990006C>T , CM000669.2:g.128990006C>T	GRCh38
NC_000007.13:g.128630060C>T , CM000669.1:g.128630060C>T	GRCh37
NC_000007.12:g.128417296C>T	NCBI36
NG_023428.1:g.70168G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012470.4:c.1453G>A MANE Select	NP_036602.1:p.Val485Ile
ENST00000265388.10:c.1453G>A MANE Select	ENSP00000265388.5:p.Val485Ile
NM_001191028.2:c.1453G>A	NP_001177957.2:p.Val485Ile
NM_001191028.3:c.1453G>A	NP_001177957.2:p.Val485Ile
NM_001382216.1:c.1555G>A	NP_001369145.1:p.Val519Ile
NM_001382217.1:c.1534G>A	NP_001369146.1:p.Val512Ile
NM_001382218.1:c.1453G>A	NP_001369147.1:p.Val485Ile
NM_001382219.1:c.1345G>A	NP_001369148.1:p.Val449Ile
NM_001382220.1:c.1453G>A	NP_001369149.1:p.Val485Ile
NM_001382221.1:c.1309G>A	NP_001369150.1:p.Val437Ile
NM_001382222.1:c.1306G>A	NP_001369151.1:p.Val436Ile
NM_001382223.1:c.1453G>A	NP_001369152.1:p.Val485Ile
NM_012470.3:c.1453G>A	NP_036602.1:p.Val485Ile
NR_034053.2:n.2017G>A
NR_034053.3:n.1955G>A
NR_167911.1:n.2042G>A
NR_167912.1:n.1794G>A
NR_167913.1:n.1702G>A
NR_167914.1:n.1862G>A
NR_167915.1:n.1955G>A
NR_167916.1:n.1794G>A
NR_167917.1:n.1702G>A
NR_167918.1:n.2080G>A
NR_167919.1:n.1919G>A
NR_167920.1:n.2080G>A
NR_167921.1:n.2080G>A
NR_167922.1:n.1916G>A
NR_167923.1:n.1919G>A
NR_167924.1:n.1794G>A
NR_167925.1:n.1794G>A
NR_167926.1:n.1930G>A
NR_167927.1:n.2021G>A
ENST00000265388.9:c.1453G>A	ENSP00000265388.5:p.Val485Ile
ENST00000471166.1:c.1555G>A	ENSP00000418267.1:p.Val519Ile
ENST00000471234.5:c.1453G>A	ENSP00000418646.1:p.Val485Ile
ENST00000482320.5:c.1255G>A	ENSP00000420089.1:p.Val419Ile
ENST00000627585.2:c.1555G>A	ENSP00000487231.1:p.Val519Ile
XM_011515989.1:c.1255G>A	XP_011514291.1:p.Val419Ile