Canonical Allele Identifier: CA1511814
Gene: TPO HGNC NCBI

Linked Data

dbSNP Id: rs759227872
gnomAD v2: 2-1491691-G-A
gnomAD v4: 2-1487919-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1487919G>A , CM000664.2:g.1487919G>A GRCh38
NC_000002.11:g.1491691G>A , CM000664.1:g.1491691G>A GRCh37
NC_000002.10:g.1470698G>A NCBI36
NG_011581.1:g.79457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329066.9:c.1696G>A MANE Select ENSP00000329869.4:p.Val566Met
ENST00000329066.8:c.1696G>A ENSP00000329869.4:p.Val566Met
ENST00000345913.8:c.1696G>A ENSP00000318820.7:p.Val566Met
ENST00000346956.7:c.1696G>A ENSP00000263886.6:p.Val566Met
ENST00000382198.5:c.1177G>A ENSP00000371633.1:p.Val393Met
ENST00000382201.7:c.1597+3065G>A ENSP00000371636.3:n.1597+3065G>A
ENST00000422464.5:c.1483G>A ENSP00000405788.1:p.Val495Met
ENST00000446278.5:c.192+3065G>A
ENST00000462973.5:n.186+3065G>A
ENST00000469607.3:c.190+3065G>A ENSP00000419461.1:n.190+3065G>A
ENST00000497517.6:n.439+3065G>A
NM_000547.5:c.1696G>A NP_000538.3:p.Val566Met
NM_001206744.1:c.1696G>A NP_001193673.1:p.Val566Met
NM_001206745.1:c.1597+3065G>A NP_001193674.1:n.1597+3065G>A
NM_175719.3:c.1597+3065G>A NP_783650.1:n.1597+3065G>A
NM_175721.3:c.1696G>A NP_783652.1:p.Val566Met
NM_175722.3:c.1177G>A NP_783653.1:p.Val393Met
XM_011510379.1:c.1696G>A XP_011508681.1:p.Val566Met
XM_011510380.1:c.1696G>A XP_011508682.1:p.Val566Met
XM_011510381.1:c.1597+3065G>A XP_011508683.1:n.1597+3065G>A
XR_922681.1:n.1697G>A
XM_011510380.3:c.1732G>A XP_011508682.2:p.Val578Met
XM_024453085.1:c.1732G>A XP_024308853.1:p.Val578Met
XM_024453086.1:c.1732G>A XP_024308854.1:p.Val578Met
XM_024453087.1:c.1696G>A XP_024308855.1:p.Val566Met
XM_024453088.1:c.1696G>A XP_024308856.1:p.Val566Met
XM_024453089.1:c.1696G>A XP_024308857.1:p.Val566Met
XM_024453090.1:c.1732G>A XP_024308858.1:p.Val578Met
XM_024453091.1:c.1633+3065G>A XP_024308859.1:n.1633+3065G>A
XM_024453092.1:c.1633+3065G>A XP_024308860.1:n.1633+3065G>A
XM_024453093.1:c.1213G>A XP_024308861.1:p.Val405Met
NM_001206744.2:c.1696G>A MANE Select NP_001193673.1:p.Val566Met
NM_000547.6:c.1696G>A NP_000538.3:p.Val566Met
NM_001206745.2:c.1597+3065G>A NP_001193674.1:n.1597+3065G>A
NM_175719.4:c.1597+3065G>A NP_783650.1:n.1597+3065G>A