Canonical Allele Identifier: CA4478249
Community Standard Title: NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128997442T>C , CM000669.2:g.128997442T>C GRCh38
NC_000007.13:g.128637496T>C , CM000669.1:g.128637496T>C GRCh37
NC_000007.12:g.128424732T>C NCBI36
NG_023428.1:g.62732A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.1105A>G MANE Select NP_036602.1:p.Ile369Val
ENST00000265388.10:c.1105A>G MANE Select ENSP00000265388.5:p.Ile369Val
NM_001191028.2:c.1105A>G NP_001177957.2:p.Ile369Val
NM_001191028.3:c.1105A>G NP_001177957.2:p.Ile369Val
NM_001382216.1:c.1105A>G NP_001369145.1:p.Ile369Val
NM_001382217.1:c.1186A>G NP_001369146.1:p.Ile396Val
NM_001382218.1:c.1105A>G NP_001369147.1:p.Ile369Val
NM_001382219.1:c.1105A>G NP_001369148.1:p.Ile369Val
NM_001382220.1:c.1105A>G NP_001369149.1:p.Ile369Val
NM_001382221.1:c.961A>G NP_001369150.1:p.Ile321Val
NM_001382222.1:c.1011+2987A>G NP_001369151.1:n.1011+2987A>G
NM_001382223.1:c.1105A>G NP_001369152.1:p.Ile369Val
NM_012470.3:c.1105A>G NP_036602.1:p.Ile369Val
NR_034053.2:n.1669A>G
NR_034053.3:n.1607A>G
NR_167911.1:n.1694A>G
NR_167912.1:n.1446A>G
NR_167913.1:n.1446A>G
NR_167914.1:n.1514A>G
NR_167915.1:n.1607A>G
NR_167916.1:n.1446A>G
NR_167917.1:n.1446A>G
NR_167918.1:n.1732A>G
NR_167919.1:n.1571A>G
NR_167920.1:n.1732A>G
NR_167921.1:n.1732A>G
NR_167922.1:n.1568A>G
NR_167923.1:n.1571A>G
NR_167924.1:n.1446A>G
NR_167925.1:n.1446A>G
NR_167926.1:n.1635+2987A>G
NR_167927.1:n.1571A>G
ENST00000265388.9:c.1105A>G ENSP00000265388.5:p.Ile369Val
ENST00000471166.1:c.1105A>G ENSP00000418267.1:p.Ile369Val
ENST00000471234.5:c.1105A>G ENSP00000418646.1:p.Ile369Val
ENST00000482320.5:c.907A>G ENSP00000420089.1:p.Ile303Val
ENST00000627585.2:c.1105A>G ENSP00000487231.1:p.Ile369Val
XM_011515989.1:c.907A>G XP_011514291.1:p.Ile303Val