Canonical Allele Identifier: CA345695824
Gene: TPO HGNC NCBI

Linked Data

dbSNP Id: rs1483056368
gnomAD v2: 2-1491671-A-T
gnomAD v4: 2-1487899-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1487899A>T , CM000664.2:g.1487899A>T GRCh38
NC_000002.11:g.1491671A>T , CM000664.1:g.1491671A>T GRCh37
NC_000002.10:g.1470678A>T NCBI36
NG_011581.1:g.79437A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329066.9:c.1676A>T MANE Select ENSP00000329869.4:p.Glu559Val
ENST00000329066.8:c.1676A>T ENSP00000329869.4:p.Glu559Val
ENST00000345913.8:c.1676A>T ENSP00000318820.7:p.Glu559Val
ENST00000346956.7:c.1676A>T ENSP00000263886.6:p.Glu559Val
ENST00000382198.5:c.1157A>T ENSP00000371633.1:p.Glu386Val
ENST00000382201.7:c.1597+3045A>T ENSP00000371636.3:n.1597+3045A>T
ENST00000422464.5:c.1463A>T ENSP00000405788.1:p.Glu488Val
ENST00000446278.5:c.192+3045A>T
ENST00000462973.5:n.186+3045A>T
ENST00000469607.3:c.190+3045A>T ENSP00000419461.1:n.190+3045A>T
ENST00000497517.6:n.439+3045A>T
NM_000547.5:c.1676A>T NP_000538.3:p.Glu559Val
NM_001206744.1:c.1676A>T NP_001193673.1:p.Glu559Val
NM_001206745.1:c.1597+3045A>T NP_001193674.1:n.1597+3045A>T
NM_175719.3:c.1597+3045A>T NP_783650.1:n.1597+3045A>T
NM_175721.3:c.1676A>T NP_783652.1:p.Glu559Val
NM_175722.3:c.1157A>T NP_783653.1:p.Glu386Val
XM_011510379.1:c.1676A>T XP_011508681.1:p.Glu559Val
XM_011510380.1:c.1676A>T XP_011508682.1:p.Glu559Val
XM_011510381.1:c.1597+3045A>T XP_011508683.1:n.1597+3045A>T
XR_922681.1:n.1677A>T
XM_011510380.3:c.1712A>T XP_011508682.2:p.Glu571Val
XM_024453085.1:c.1712A>T XP_024308853.1:p.Glu571Val
XM_024453086.1:c.1712A>T XP_024308854.1:p.Glu571Val
XM_024453087.1:c.1676A>T XP_024308855.1:p.Glu559Val
XM_024453088.1:c.1676A>T XP_024308856.1:p.Glu559Val
XM_024453089.1:c.1676A>T XP_024308857.1:p.Glu559Val
XM_024453090.1:c.1712A>T XP_024308858.1:p.Glu571Val
XM_024453091.1:c.1633+3045A>T XP_024308859.1:n.1633+3045A>T
XM_024453092.1:c.1633+3045A>T XP_024308860.1:n.1633+3045A>T
XM_024453093.1:c.1193A>T XP_024308861.1:p.Glu398Val
NM_001206744.2:c.1676A>T MANE Select NP_001193673.1:p.Glu559Val
NM_000547.6:c.1676A>T NP_000538.3:p.Glu559Val
NM_001206745.2:c.1597+3045A>T NP_001193674.1:n.1597+3045A>T
NM_175719.4:c.1597+3045A>T NP_783650.1:n.1597+3045A>T