Canonical Allele Identifier: CA4478359

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 260267
• ClinVar RCV Id: RCV000243079 ; RCV000725583 ; RCV001087184
• dbSNP Id: rs148885407
• ExAC: 7:128645184 A / G
• gnomAD v2: 7-128645184-A-G
• gnomAD v3: 7-129005130-A-G
• gnomAD v4: 7-129005130-A-G
• MyVariant Identifiers: chr7:g.128645184A>G (hg19) ; chr7:g.129005130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129005130A>G , CM000669.2:g.129005130A>G	GRCh38
NC_000007.13:g.128645184A>G , CM000669.1:g.128645184A>G	GRCh37
NC_000007.12:g.128432420A>G	NCBI36
NG_023428.1:g.55044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265388.10:c.582T>C MANE Select	ENSP00000265388.5:p.Asp194=
ENST00000265388.9:c.582T>C	ENSP00000265388.5:p.Asp194=
ENST00000471166.1:c.582T>C	ENSP00000418267.1:p.Asp194=
ENST00000471234.5:c.582T>C	ENSP00000418646.1:p.Asp194=
ENST00000482320.5:c.384T>C	ENSP00000420089.1:p.Asp128=
ENST00000627585.2:c.582T>C	ENSP00000487231.1:p.Asp194=
NM_001191028.2:c.582T>C	NP_001177957.2:p.Asp194=
NM_012470.3:c.582T>C	NP_036602.1:p.Asp194=
NR_034053.2:n.1146T>C
XM_011515989.1:c.384T>C	XP_011514291.1:p.Asp128=
NM_001191028.3:c.582T>C	NP_001177957.2:p.Asp194=
NM_001382216.1:c.582T>C	NP_001369145.1:p.Asp194=
NM_001382217.1:c.663T>C	NP_001369146.1:p.Asp221=
NM_001382218.1:c.582T>C	NP_001369147.1:p.Asp194=
NM_001382219.1:c.582T>C	NP_001369148.1:p.Asp194=
NM_001382220.1:c.582T>C	NP_001369149.1:p.Asp194=
NM_001382221.1:c.553-3896T>C	NP_001369150.1:n.553-3896T>C
NM_001382222.1:c.582T>C	NP_001369151.1:p.Asp194=
NM_001382223.1:c.582T>C	NP_001369152.1:p.Asp194=
NM_012470.4:c.582T>C MANE Select	NP_036602.1:p.Asp194=
NR_034053.3:n.1084T>C
NR_167911.1:n.1171T>C
NR_167912.1:n.923T>C
NR_167913.1:n.923T>C
NR_167914.1:n.923T>C
NR_167915.1:n.1084T>C
NR_167916.1:n.923T>C
NR_167917.1:n.923T>C
NR_167918.1:n.1209T>C
NR_167919.1:n.1048T>C
NR_167920.1:n.1209T>C
NR_167921.1:n.1048T>C
NR_167922.1:n.1045T>C
NR_167923.1:n.1048T>C
NR_167924.1:n.923T>C
NR_167925.1:n.923T>C
NR_167926.1:n.1206T>C
NR_167927.1:n.1048T>C