Canonical Allele Identifier: CA4478477

Gene: TNPO3

Linked Data

• ClinVar Variation Id: 499031
• ClinVar RCV Id: RCV000726941 ; RCV002062035
• dbSNP Id: rs138263703
• ExAC: 7:128694795 G / A
• gnomAD v2: 7-128694795-G-A
• gnomAD v3: 7-129054741-G-A
• gnomAD v4: 7-129054741-G-A
• MyVariant Identifiers: chr7:g.128694795G>A (hg19) ; chr7:g.129054741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129054741G>A , CM000669.2:g.129054741G>A	GRCh38
NC_000007.13:g.128694795G>A , CM000669.1:g.128694795G>A	GRCh37
NC_000007.12:g.128482031G>A	NCBI36
NG_023428.1:g.5433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265388.10:c.30C>T MANE Select	ENSP00000265388.5:p.Leu10=
ENST00000265388.9:c.30C>T	ENSP00000265388.5:p.Leu10=
ENST00000471166.1:c.30C>T	ENSP00000418267.1:p.Leu10=
ENST00000471234.5:c.30C>T	ENSP00000418646.1:p.Leu10=
ENST00000482320.5:c.-330C>T	ENSP00000420089.1:n.-330C>T
ENST00000627585.2:c.30C>T	ENSP00000487231.1:p.Leu10=
NM_001191028.2:c.30C>T	NP_001177957.2:p.Leu10=
NM_012470.3:c.30C>T	NP_036602.1:p.Leu10=
NR_034053.2:n.433C>T
NM_001191028.3:c.30C>T	NP_001177957.2:p.Leu10=
NM_001382216.1:c.30C>T	NP_001369145.1:p.Leu10=
NM_001382217.1:c.30C>T	NP_001369146.1:p.Leu10=
NM_001382218.1:c.30C>T	NP_001369147.1:p.Leu10=
NM_001382219.1:c.30C>T	NP_001369148.1:p.Leu10=
NM_001382220.1:c.30C>T	NP_001369149.1:p.Leu10=
NM_001382221.1:c.30C>T	NP_001369150.1:p.Leu10=
NM_001382222.1:c.30C>T	NP_001369151.1:p.Leu10=
NM_001382223.1:c.30C>T	NP_001369152.1:p.Leu10=
NM_012470.4:c.30C>T MANE Select	NP_036602.1:p.Leu10=
NR_034053.3:n.371C>T
NR_167911.1:n.371C>T
NR_167912.1:n.371C>T
NR_167913.1:n.371C>T
NR_167914.1:n.371C>T
NR_167915.1:n.371C>T
NR_167916.1:n.371C>T
NR_167917.1:n.371C>T
NR_167918.1:n.371C>T
NR_167919.1:n.371C>T
NR_167920.1:n.371C>T
NR_167921.1:n.371C>T
NR_167922.1:n.371C>T
NR_167923.1:n.371C>T
NR_167924.1:n.371C>T
NR_167925.1:n.371C>T
NR_167926.1:n.371C>T
NR_167927.1:n.371C>T