Canonical Allele Identifier: CA369231335
Community Standard Title: NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128992023G>A , CM000669.2:g.128992023G>A GRCh38
NC_000007.13:g.128632077G>A , CM000669.1:g.128632077G>A GRCh37
NC_000007.12:g.128419313G>A NCBI36
NG_023428.1:g.68151C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.1334C>T MANE Select NP_036602.1:p.Ala445Val
ENST00000265388.10:c.1334C>T MANE Select ENSP00000265388.5:p.Ala445Val
NM_001191028.2:c.1334C>T NP_001177957.2:p.Ala445Val
NM_001191028.3:c.1334C>T NP_001177957.2:p.Ala445Val
NM_001382216.1:c.1334C>T NP_001369145.1:p.Ala445Val
NM_001382217.1:c.1415C>T NP_001369146.1:p.Ala472Val
NM_001382218.1:c.1334C>T NP_001369147.1:p.Ala445Val
NM_001382219.1:c.1226C>T NP_001369148.1:p.Ala409Val
NM_001382220.1:c.1334C>T NP_001369149.1:p.Ala445Val
NM_001382221.1:c.1190C>T NP_001369150.1:p.Ala397Val
NM_001382222.1:c.1187C>T NP_001369151.1:p.Ala396Val
NM_001382223.1:c.1334C>T NP_001369152.1:p.Ala445Val
NM_012470.3:c.1334C>T NP_036602.1:p.Ala445Val
NR_034053.2:n.1898C>T
NR_034053.3:n.1836C>T
NR_167911.1:n.1923C>T
NR_167912.1:n.1675C>T
NR_167913.1:n.1607+1784C>T
NR_167914.1:n.1743C>T
NR_167915.1:n.1836C>T
NR_167916.1:n.1675C>T
NR_167917.1:n.1607+1784C>T
NR_167918.1:n.1961C>T
NR_167919.1:n.1800C>T
NR_167920.1:n.1961C>T
NR_167921.1:n.1961C>T
NR_167922.1:n.1797C>T
NR_167923.1:n.1800C>T
NR_167924.1:n.1675C>T
NR_167925.1:n.1675C>T
NR_167926.1:n.1811C>T
NR_167927.1:n.1800C>T
ENST00000265388.9:c.1334C>T ENSP00000265388.5:p.Ala445Val
ENST00000471166.1:c.1334C>T ENSP00000418267.1:p.Ala445Val
ENST00000471234.5:c.1334C>T ENSP00000418646.1:p.Ala445Val
ENST00000482320.5:c.1136C>T ENSP00000420089.1:p.Ala379Val
ENST00000627585.2:c.1334C>T ENSP00000487231.1:p.Ala445Val
XM_011515989.1:c.1136C>T XP_011514291.1:p.Ala379Val