Canonical Allele Identifier: CA345694632

Gene: TPO

Linked Data

• dbSNP Id: rs2148673702
• MyVariant Identifiers: chr2:g.1481254C>G (hg19) ; chr2:g.1477482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477482C>G , CM000664.2:g.1477482C>G	GRCh38
NC_000002.11:g.1481254C>G , CM000664.1:g.1481254C>G	GRCh37
NC_000002.10:g.1460261C>G	NCBI36
NG_011581.1:g.69020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1216C>G MANE Select	ENSP00000329869.4:p.Leu406Val
ENST00000329066.8:c.1216C>G	ENSP00000329869.4:p.Leu406Val
ENST00000345913.8:c.1216C>G	ENSP00000318820.7:p.Leu406Val
ENST00000346956.7:c.1216C>G	ENSP00000263886.6:p.Leu406Val
ENST00000382198.5:c.820-7114C>G	ENSP00000371633.1:n.820-7114C>G
ENST00000382201.7:c.1216C>G	ENSP00000371636.3:p.Leu406Val
ENST00000422464.5:c.1003C>G	ENSP00000405788.1:p.Leu335Val
ENST00000497517.6:n.181-7114C>G
NM_000547.5:c.1216C>G	NP_000538.3:p.Leu406Val
NM_001206744.1:c.1216C>G	NP_001193673.1:p.Leu406Val
NM_001206745.1:c.1216C>G	NP_001193674.1:p.Leu406Val
NM_175719.3:c.1216C>G	NP_783650.1:p.Leu406Val
NM_175721.3:c.1216C>G	NP_783652.1:p.Leu406Val
NM_175722.3:c.820-7114C>G	NP_783653.1:n.820-7114C>G
XM_011510379.1:c.1216C>G	XP_011508681.1:p.Leu406Val
XM_011510380.1:c.1216C>G	XP_011508682.1:p.Leu406Val
XM_011510381.1:c.1216C>G	XP_011508683.1:p.Leu406Val
XM_011510382.1:c.1216C>G	XP_011508684.1:p.Leu406Val
XR_922681.1:n.1217C>G
XM_011510380.3:c.1252C>G	XP_011508682.2:p.Leu418Val
XM_024453085.1:c.1252C>G	XP_024308853.1:p.Leu418Val
XM_024453086.1:c.1252C>G	XP_024308854.1:p.Leu418Val
XM_024453087.1:c.1216C>G	XP_024308855.1:p.Leu406Val
XM_024453088.1:c.1216C>G	XP_024308856.1:p.Leu406Val
XM_024453089.1:c.1216C>G	XP_024308857.1:p.Leu406Val
XM_024453090.1:c.1252C>G	XP_024308858.1:p.Leu418Val
XM_024453091.1:c.1252C>G	XP_024308859.1:p.Leu418Val
XM_024453092.1:c.1252C>G	XP_024308860.1:p.Leu418Val
XM_024453093.1:c.856-7114C>G	XP_024308861.1:n.856-7114C>G
NM_001206744.2:c.1216C>G MANE Select	NP_001193673.1:p.Leu406Val
NM_000547.6:c.1216C>G	NP_000538.3:p.Leu406Val
NM_001206745.2:c.1216C>G	NP_001193674.1:p.Leu406Val
NM_175719.4:c.1216C>G	NP_783650.1:p.Leu406Val