Canonical Allele Identifier: CA4478433

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 283108
• ClinVar RCV Id: RCV000725208 ; RCV001083910 ; RCV003930075
• dbSNP Id: rs61756250
• ExAC: 7:128658057 G / A
• gnomAD v2: 7-128658057-G-A
• gnomAD v3: 7-129018003-G-A
• gnomAD v4: 7-129018003-G-A
• MyVariant Identifiers: chr7:g.128658057G>A (hg19) ; chr7:g.129018003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129018003G>A , CM000669.2:g.129018003G>A	GRCh38
NC_000007.13:g.128658057G>A , CM000669.1:g.128658057G>A	GRCh37
NC_000007.12:g.128445293G>A	NCBI36
NG_023428.1:g.42171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265388.10:c.275C>T MANE Select	ENSP00000265388.5:p.Thr92Ile
ENST00000265388.9:c.275C>T	ENSP00000265388.5:p.Thr92Ile
ENST00000471166.1:c.275C>T	ENSP00000418267.1:p.Thr92Ile
ENST00000471234.5:c.275C>T	ENSP00000418646.1:p.Thr92Ile
ENST00000482320.5:c.77C>T	ENSP00000420089.1:p.Thr26Ile
ENST00000627585.2:c.275C>T	ENSP00000487231.1:p.Thr92Ile
NM_001191028.2:c.275C>T	NP_001177957.2:p.Thr92Ile
NM_012470.3:c.275C>T	NP_036602.1:p.Thr92Ile
NR_034053.2:n.839C>T
XM_011515989.1:c.77C>T	XP_011514291.1:p.Thr26Ile
NM_001191028.3:c.275C>T	NP_001177957.2:p.Thr92Ile
NM_001382216.1:c.275C>T	NP_001369145.1:p.Thr92Ile
NM_001382217.1:c.275C>T	NP_001369146.1:p.Thr92Ile
NM_001382218.1:c.275C>T	NP_001369147.1:p.Thr92Ile
NM_001382219.1:c.275C>T	NP_001369148.1:p.Thr92Ile
NM_001382220.1:c.275C>T	NP_001369149.1:p.Thr92Ile
NM_001382221.1:c.275C>T	NP_001369150.1:p.Thr92Ile
NM_001382222.1:c.275C>T	NP_001369151.1:p.Thr92Ile
NM_001382223.1:c.275C>T	NP_001369152.1:p.Thr92Ile
NM_012470.4:c.275C>T MANE Select	NP_036602.1:p.Thr92Ile
NR_034053.3:n.777C>T
NR_167911.1:n.741C>T
NR_167912.1:n.616C>T
NR_167913.1:n.616C>T
NR_167914.1:n.616C>T
NR_167915.1:n.777C>T
NR_167916.1:n.616C>T
NR_167917.1:n.616C>T
NR_167918.1:n.902C>T
NR_167919.1:n.741C>T
NR_167920.1:n.902C>T
NR_167921.1:n.741C>T
NR_167922.1:n.616C>T
NR_167923.1:n.741C>T
NR_167924.1:n.616C>T
NR_167925.1:n.616C>T
NR_167926.1:n.777C>T
NR_167927.1:n.741C>T