Canonical Allele Identifier: CA1512122

Gene: TPO

Linked Data

• ClinVar Variation Id: 3021711
• ClinVar RCV Id: RCV003880294 ; RCV004527015
• dbSNP Id: rs774366588
• ExAC: 2:1507760 C / T
• gnomAD v2: 2-1507760-C-T
• gnomAD v3: 2-1503988-C-T
• gnomAD v4: 2-1503988-C-T
• COSMIC: COSM3296542 ; COSM4304213
• MyVariant Identifiers: chr2:g.1507760C>T (hg19) ; chr2:g.1503988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1503988C>T , CM000664.2:g.1503988C>T	GRCh38
NC_000002.11:g.1507760C>T , CM000664.1:g.1507760C>T	GRCh37
NC_000002.10:g.1486767C>T	NCBI36
NG_011581.1:g.95526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2427C>T MANE Select	ENSP00000329869.4:p.His809=
ENST00000329066.8:c.2427C>T	ENSP00000329869.4:p.His809=
ENST00000345913.8:c.2427C>T	ENSP00000318820.7:p.His809=
ENST00000346956.7:c.2386+7223C>T	ENSP00000263886.6:n.2386+7223C>T
ENST00000382198.5:c.1908C>T	ENSP00000371633.1:p.His636=
ENST00000382201.7:c.2256C>T	ENSP00000371636.3:p.His752=
ENST00000422464.5:c.2173+7223C>T	ENSP00000405788.1:n.2173+7223C>T
ENST00000425083.3:n.90C>T
ENST00000446278.5:c.851C>T
ENST00000462973.5:n.424+9949C>T
ENST00000469607.3:c.808+7223C>T	ENSP00000419461.1:n.808+7223C>T
ENST00000497517.6:n.718C>T
NM_000547.5:c.2427C>T	NP_000538.3:p.His809=
NM_001206744.1:c.2427C>T	NP_001193673.1:p.His809=
NM_001206745.1:c.2256C>T	NP_001193674.1:p.His752=
NM_175719.3:c.2256C>T	NP_783650.1:p.His752=
NM_175721.3:c.2386+7223C>T	NP_783652.1:n.2386+7223C>T
NM_175722.3:c.1908C>T	NP_783653.1:p.His636=
XM_011510379.1:c.2386+7223C>T	XP_011508681.1:n.2386+7223C>T
XM_011510380.1:c.2427C>T	XP_011508682.1:p.His809=
XM_011510381.1:c.2215+7223C>T	XP_011508683.1:n.2215+7223C>T
XR_922681.1:n.2428C>T
XM_011510380.3:c.2463C>T	XP_011508682.2:p.His821=
XM_024453085.1:c.2422+7223C>T	XP_024308853.1:n.2422+7223C>T
XM_024453086.1:c.2463C>T	XP_024308854.1:p.His821=
XM_024453087.1:c.2386+7223C>T	XP_024308855.1:n.2386+7223C>T
XM_024453088.1:c.2386+7223C>T	XP_024308856.1:n.2386+7223C>T
XM_024453089.1:c.2386+7223C>T	XP_024308857.1:n.2386+7223C>T
XM_024453090.1:c.2422+7223C>T	XP_024308858.1:n.2422+7223C>T
XM_024453091.1:c.2292C>T	XP_024308859.1:p.His764=
XM_024453092.1:c.2251+7223C>T	XP_024308860.1:n.2251+7223C>T
XM_024453093.1:c.1944C>T	XP_024308861.1:p.His648=
NM_001206744.2:c.2427C>T MANE Select	NP_001193673.1:p.His809=
NM_000547.6:c.2427C>T	NP_000538.3:p.His809=
NM_001206745.2:c.2256C>T	NP_001193674.1:p.His752=
NM_175719.4:c.2256C>T	NP_783650.1:p.His752=