Canonical Allele Identifier: CA1512140

Gene: TPO

Linked Data

• ClinVar Variation Id: 74130
• ClinVar RCV Id: RCV000365903
• dbSNP Id: rs145974595
• ExAC: 2:1507821 G / A
• gnomAD v2: 2-1507821-G-A
• gnomAD v3: 2-1504049-G-A
• gnomAD v4: 2-1504049-G-A
• COSMIC: COSM3567513 ; COSM3567514
• MyVariant Identifiers: chr2:g.1507821G>A (hg19) ; chr2:g.1504049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1504049G>A , CM000664.2:g.1504049G>A	GRCh38
NC_000002.11:g.1507821G>A , CM000664.1:g.1507821G>A	GRCh37
NC_000002.10:g.1486828G>A	NCBI36
NG_011581.1:g.95587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2488G>A MANE Select	ENSP00000329869.4:p.Glu830Lys
ENST00000329066.8:c.2488G>A	ENSP00000329869.4:p.Glu830Lys
ENST00000345913.8:c.2488G>A	ENSP00000318820.7:p.Glu830Lys
ENST00000346956.7:c.2386+7284G>A	ENSP00000263886.6:n.2386+7284G>A
ENST00000382198.5:c.1969G>A	ENSP00000371633.1:p.Glu657Lys
ENST00000382201.7:c.2317G>A	ENSP00000371636.3:p.Glu773Lys
ENST00000422464.5:c.2173+7284G>A	ENSP00000405788.1:n.2173+7284G>A
ENST00000425083.3:n.151G>A
ENST00000446278.5:c.912G>A
ENST00000462973.5:n.424+10010G>A
ENST00000469607.3:c.808+7284G>A	ENSP00000419461.1:n.808+7284G>A
ENST00000497517.6:n.779G>A
NM_000547.5:c.2488G>A	NP_000538.3:p.Glu830Lys
NM_001206744.1:c.2488G>A	NP_001193673.1:p.Glu830Lys
NM_001206745.1:c.2317G>A	NP_001193674.1:p.Glu773Lys
NM_175719.3:c.2317G>A	NP_783650.1:p.Glu773Lys
NM_175721.3:c.2386+7284G>A	NP_783652.1:n.2386+7284G>A
NM_175722.3:c.1969G>A	NP_783653.1:p.Glu657Lys
XM_011510379.1:c.2386+7284G>A	XP_011508681.1:n.2386+7284G>A
XM_011510380.1:c.2488G>A	XP_011508682.1:p.Glu830Lys
XM_011510381.1:c.2215+7284G>A	XP_011508683.1:n.2215+7284G>A
XR_922681.1:n.2489G>A
XM_011510380.3:c.2524G>A	XP_011508682.2:p.Glu842Lys
XM_024453085.1:c.2422+7284G>A	XP_024308853.1:n.2422+7284G>A
XM_024453086.1:c.2524G>A	XP_024308854.1:p.Glu842Lys
XM_024453087.1:c.2386+7284G>A	XP_024308855.1:n.2386+7284G>A
XM_024453088.1:c.2386+7284G>A	XP_024308856.1:n.2386+7284G>A
XM_024453089.1:c.2386+7284G>A	XP_024308857.1:n.2386+7284G>A
XM_024453090.1:c.2422+7284G>A	XP_024308858.1:n.2422+7284G>A
XM_024453091.1:c.2353G>A	XP_024308859.1:p.Glu785Lys
XM_024453092.1:c.2251+7284G>A	XP_024308860.1:n.2251+7284G>A
XM_024453093.1:c.2005G>A	XP_024308861.1:p.Glu669Lys
NM_001206744.2:c.2488G>A MANE Select	NP_001193673.1:p.Glu830Lys
NM_000547.6:c.2488G>A	NP_000538.3:p.Glu830Lys
NM_001206745.2:c.2317G>A	NP_001193674.1:p.Glu773Lys
NM_175719.4:c.2317G>A	NP_783650.1:p.Glu773Lys