Canonical Allele Identifier: CA1512128
Gene: TPO HGNC NCBI

Linked Data

dbSNP Id: rs753249875
gnomAD v2: 2-1507771-G-C
gnomAD v4: 2-1503999-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1503999G>C , CM000664.2:g.1503999G>C GRCh38
NC_000002.11:g.1507771G>C , CM000664.1:g.1507771G>C GRCh37
NC_000002.10:g.1486778G>C NCBI36
NG_011581.1:g.95537G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329066.9:c.2438G>C MANE Select ENSP00000329869.4:p.Arg813Thr
ENST00000329066.8:c.2438G>C ENSP00000329869.4:p.Arg813Thr
ENST00000345913.8:c.2438G>C ENSP00000318820.7:p.Arg813Thr
ENST00000346956.7:c.2386+7234G>C ENSP00000263886.6:n.2386+7234G>C
ENST00000382198.5:c.1919G>C ENSP00000371633.1:p.Arg640Thr
ENST00000382201.7:c.2267G>C ENSP00000371636.3:p.Arg756Thr
ENST00000422464.5:c.2173+7234G>C ENSP00000405788.1:n.2173+7234G>C
ENST00000425083.3:n.101G>C
ENST00000446278.5:c.862G>C
ENST00000462973.5:n.424+9960G>C
ENST00000469607.3:c.808+7234G>C ENSP00000419461.1:n.808+7234G>C
ENST00000497517.6:n.729G>C
NM_000547.5:c.2438G>C NP_000538.3:p.Arg813Thr
NM_001206744.1:c.2438G>C NP_001193673.1:p.Arg813Thr
NM_001206745.1:c.2267G>C NP_001193674.1:p.Arg756Thr
NM_175719.3:c.2267G>C NP_783650.1:p.Arg756Thr
NM_175721.3:c.2386+7234G>C NP_783652.1:n.2386+7234G>C
NM_175722.3:c.1919G>C NP_783653.1:p.Arg640Thr
XM_011510379.1:c.2386+7234G>C XP_011508681.1:n.2386+7234G>C
XM_011510380.1:c.2438G>C XP_011508682.1:p.Arg813Thr
XM_011510381.1:c.2215+7234G>C XP_011508683.1:n.2215+7234G>C
XR_922681.1:n.2439G>C
XM_011510380.3:c.2474G>C XP_011508682.2:p.Arg825Thr
XM_024453085.1:c.2422+7234G>C XP_024308853.1:n.2422+7234G>C
XM_024453086.1:c.2474G>C XP_024308854.1:p.Arg825Thr
XM_024453087.1:c.2386+7234G>C XP_024308855.1:n.2386+7234G>C
XM_024453088.1:c.2386+7234G>C XP_024308856.1:n.2386+7234G>C
XM_024453089.1:c.2386+7234G>C XP_024308857.1:n.2386+7234G>C
XM_024453090.1:c.2422+7234G>C XP_024308858.1:n.2422+7234G>C
XM_024453091.1:c.2303G>C XP_024308859.1:p.Arg768Thr
XM_024453092.1:c.2251+7234G>C XP_024308860.1:n.2251+7234G>C
XM_024453093.1:c.1955G>C XP_024308861.1:p.Arg652Thr
NM_001206744.2:c.2438G>C MANE Select NP_001193673.1:p.Arg813Thr
NM_000547.6:c.2438G>C NP_000538.3:p.Arg813Thr
NM_001206745.2:c.2267G>C NP_001193674.1:p.Arg756Thr
NM_175719.4:c.2267G>C NP_783650.1:p.Arg756Thr