Canonical Allele Identifier: CA1511618

Gene: TPO

Linked Data

• dbSNP Id: rs763043967
• ExAC: 2:1480952 T / A
• gnomAD v2: 2-1480952-T-A
• gnomAD v4: 2-1477180-T-A
• MyVariant Identifiers: chr2:g.1480952T>A (hg19) ; chr2:g.1477180T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477180T>A , CM000664.2:g.1477180T>A	GRCh38
NC_000002.11:g.1480952T>A , CM000664.1:g.1480952T>A	GRCh37
NC_000002.10:g.1459959T>A	NCBI36
NG_011581.1:g.68718T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.914T>A MANE Select	ENSP00000329869.4:p.Phe305Tyr
ENST00000329066.8:c.914T>A	ENSP00000329869.4:p.Phe305Tyr
ENST00000345913.8:c.914T>A	ENSP00000318820.7:p.Phe305Tyr
ENST00000346956.7:c.914T>A	ENSP00000263886.6:p.Phe305Tyr
ENST00000382198.5:c.820-7416T>A	ENSP00000371633.1:n.820-7416T>A
ENST00000382201.7:c.914T>A	ENSP00000371636.3:p.Phe305Tyr
ENST00000422464.5:c.701T>A	ENSP00000405788.1:p.Phe234Tyr
ENST00000497517.6:n.181-7416T>A
NM_000547.5:c.914T>A	NP_000538.3:p.Phe305Tyr
NM_001206744.1:c.914T>A	NP_001193673.1:p.Phe305Tyr
NM_001206745.1:c.914T>A	NP_001193674.1:p.Phe305Tyr
NM_175719.3:c.914T>A	NP_783650.1:p.Phe305Tyr
NM_175721.3:c.914T>A	NP_783652.1:p.Phe305Tyr
NM_175722.3:c.820-7416T>A	NP_783653.1:n.820-7416T>A
XM_011510379.1:c.914T>A	XP_011508681.1:p.Phe305Tyr
XM_011510380.1:c.914T>A	XP_011508682.1:p.Phe305Tyr
XM_011510381.1:c.914T>A	XP_011508683.1:p.Phe305Tyr
XM_011510382.1:c.914T>A	XP_011508684.1:p.Phe305Tyr
XR_922681.1:n.915T>A
XM_011510380.3:c.950T>A	XP_011508682.2:p.Phe317Tyr
XM_024453085.1:c.950T>A	XP_024308853.1:p.Phe317Tyr
XM_024453086.1:c.950T>A	XP_024308854.1:p.Phe317Tyr
XM_024453087.1:c.914T>A	XP_024308855.1:p.Phe305Tyr
XM_024453088.1:c.914T>A	XP_024308856.1:p.Phe305Tyr
XM_024453089.1:c.914T>A	XP_024308857.1:p.Phe305Tyr
XM_024453090.1:c.950T>A	XP_024308858.1:p.Phe317Tyr
XM_024453091.1:c.950T>A	XP_024308859.1:p.Phe317Tyr
XM_024453092.1:c.950T>A	XP_024308860.1:p.Phe317Tyr
XM_024453093.1:c.856-7416T>A	XP_024308861.1:n.856-7416T>A
NM_001206744.2:c.914T>A MANE Select	NP_001193673.1:p.Phe305Tyr
NM_000547.6:c.914T>A	NP_000538.3:p.Phe305Tyr
NM_001206745.2:c.914T>A	NP_001193674.1:p.Phe305Tyr
NM_175719.4:c.914T>A	NP_783650.1:p.Phe305Tyr