Canonical Allele Identifier: CA4478136
Community Standard Title: NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128990035G>A , CM000669.2:g.128990035G>A GRCh38
NC_000007.13:g.128630089G>A , CM000669.1:g.128630089G>A GRCh37
NC_000007.12:g.128417325G>A NCBI36
NG_023428.1:g.70139C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.1424C>T MANE Select NP_036602.1:p.Thr475Met
ENST00000265388.10:c.1424C>T MANE Select ENSP00000265388.5:p.Thr475Met
NM_001191028.2:c.1424C>T NP_001177957.2:p.Thr475Met
NM_001191028.3:c.1424C>T NP_001177957.2:p.Thr475Met
NM_001382216.1:c.1526C>T NP_001369145.1:p.Thr509Met
NM_001382217.1:c.1505C>T NP_001369146.1:p.Thr502Met
NM_001382218.1:c.1424C>T NP_001369147.1:p.Thr475Met
NM_001382219.1:c.1316C>T NP_001369148.1:p.Thr439Met
NM_001382220.1:c.1424C>T NP_001369149.1:p.Thr475Met
NM_001382221.1:c.1280C>T NP_001369150.1:p.Thr427Met
NM_001382222.1:c.1277C>T NP_001369151.1:p.Thr426Met
NM_001382223.1:c.1424C>T NP_001369152.1:p.Thr475Met
NM_012470.3:c.1424C>T NP_036602.1:p.Thr475Met
NR_034053.2:n.1988C>T
NR_034053.3:n.1926C>T
NR_167911.1:n.2013C>T
NR_167912.1:n.1765C>T
NR_167913.1:n.1673C>T
NR_167914.1:n.1833C>T
NR_167915.1:n.1926C>T
NR_167916.1:n.1765C>T
NR_167917.1:n.1673C>T
NR_167918.1:n.2051C>T
NR_167919.1:n.1890C>T
NR_167920.1:n.2051C>T
NR_167921.1:n.2051C>T
NR_167922.1:n.1887C>T
NR_167923.1:n.1890C>T
NR_167924.1:n.1765C>T
NR_167925.1:n.1765C>T
NR_167926.1:n.1901C>T
NR_167927.1:n.1992C>T
ENST00000265388.9:c.1424C>T ENSP00000265388.5:p.Thr475Met
ENST00000471166.1:c.1526C>T ENSP00000418267.1:p.Thr509Met
ENST00000471234.5:c.1424C>T ENSP00000418646.1:p.Thr475Met
ENST00000482320.5:c.1226C>T ENSP00000420089.1:p.Thr409Met
ENST00000627585.2:c.1526C>T ENSP00000487231.1:p.Thr509Met
XM_011515989.1:c.1226C>T XP_011514291.1:p.Thr409Met