Canonical Allele Identifier: CA41426631
Gene: TPO HGNC NCBI

Linked Data

dbSNP Id: rs928362313
gnomAD v3: 2-1495863-G-A
gnomAD v4: 2-1495863-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1495863G>A , CM000664.2:g.1495863G>A GRCh38
NC_000002.11:g.1499635G>A , CM000664.1:g.1499635G>A GRCh37
NC_000002.10:g.1478642G>A NCBI36
NG_011581.1:g.87401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329066.9:c.2007-126G>A MANE Select ENSP00000329869.4:n.2007-126G>A
ENST00000329066.8:c.2007-126G>A ENSP00000329869.4:n.2007-126G>A
ENST00000345913.8:c.2007-126G>A ENSP00000318820.7:n.2007-126G>A
ENST00000346956.7:c.2007-126G>A ENSP00000263886.6:n.2007-126G>A
ENST00000382198.5:c.1488-126G>A ENSP00000371633.1:n.1488-126G>A
ENST00000382201.7:c.1836-126G>A ENSP00000371636.3:n.1836-126G>A
ENST00000422464.5:c.1794-126G>A ENSP00000405788.1:n.1794-126G>A
ENST00000446278.5:c.431-126G>A
ENST00000462973.5:n.424+1824G>A
ENST00000469607.3:c.429-126G>A ENSP00000419461.1:n.429-126G>A
ENST00000497517.6:n.677+1824G>A
NM_000547.5:c.2007-126G>A NP_000538.3:n.2007-126G>A
NM_001206744.1:c.2007-126G>A NP_001193673.1:n.2007-126G>A
NM_001206745.1:c.1836-126G>A NP_001193674.1:n.1836-126G>A
NM_175719.3:c.1836-126G>A NP_783650.1:n.1836-126G>A
NM_175721.3:c.2007-126G>A NP_783652.1:n.2007-126G>A
NM_175722.3:c.1488-126G>A NP_783653.1:n.1488-126G>A
XM_011510379.1:c.2007-126G>A XP_011508681.1:n.2007-126G>A
XM_011510380.1:c.2007-126G>A XP_011508682.1:n.2007-126G>A
XM_011510381.1:c.1836-126G>A XP_011508683.1:n.1836-126G>A
XR_922681.1:n.2008-126G>A
XM_011510380.3:c.2043-126G>A XP_011508682.2:n.2043-126G>A
XM_024453085.1:c.2043-126G>A XP_024308853.1:n.2043-126G>A
XM_024453086.1:c.2043-126G>A XP_024308854.1:n.2043-126G>A
XM_024453087.1:c.2007-126G>A XP_024308855.1:n.2007-126G>A
XM_024453088.1:c.2007-126G>A XP_024308856.1:n.2007-126G>A
XM_024453089.1:c.2007-126G>A XP_024308857.1:n.2007-126G>A
XM_024453090.1:c.2043-126G>A XP_024308858.1:n.2043-126G>A
XM_024453091.1:c.1872-126G>A XP_024308859.1:n.1872-126G>A
XM_024453092.1:c.1872-126G>A XP_024308860.1:n.1872-126G>A
XM_024453093.1:c.1524-126G>A XP_024308861.1:n.1524-126G>A
NM_001206744.2:c.2007-126G>A MANE Select NP_001193673.1:n.2007-126G>A
NM_000547.6:c.2007-126G>A NP_000538.3:n.2007-126G>A
NM_001206745.2:c.1836-126G>A NP_001193674.1:n.1836-126G>A
NM_175719.4:c.1836-126G>A NP_783650.1:n.1836-126G>A