Canonical Allele Identifier: CA345693359

Gene: TPO

Linked Data

• MyVariant Identifiers: chr2:g.1507722G>T (hg19) ; chr2:g.1503950G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1503950G>T , CM000664.2:g.1503950G>T	GRCh38
NC_000002.11:g.1507722G>T , CM000664.1:g.1507722G>T	GRCh37
NC_000002.10:g.1486729G>T	NCBI36
NG_011581.1:g.95488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2389G>T MANE Select	ENSP00000329869.4:p.Val797Leu
ENST00000329066.8:c.2389G>T	ENSP00000329869.4:p.Val797Leu
ENST00000345913.8:c.2389G>T	ENSP00000318820.7:p.Val797Leu
ENST00000346956.7:c.2386+7185G>T	ENSP00000263886.6:n.2386+7185G>T
ENST00000382198.5:c.1870G>T	ENSP00000371633.1:p.Val624Leu
ENST00000382201.7:c.2218G>T	ENSP00000371636.3:p.Val740Leu
ENST00000422464.5:c.2173+7185G>T	ENSP00000405788.1:n.2173+7185G>T
ENST00000425083.3:n.52G>T
ENST00000446278.5:c.813G>T
ENST00000462973.5:n.424+9911G>T
ENST00000469607.3:c.808+7185G>T	ENSP00000419461.1:n.808+7185G>T
ENST00000497517.6:n.680G>T
NM_000547.5:c.2389G>T	NP_000538.3:p.Val797Leu
NM_001206744.1:c.2389G>T	NP_001193673.1:p.Val797Leu
NM_001206745.1:c.2218G>T	NP_001193674.1:p.Val740Leu
NM_175719.3:c.2218G>T	NP_783650.1:p.Val740Leu
NM_175721.3:c.2386+7185G>T	NP_783652.1:n.2386+7185G>T
NM_175722.3:c.1870G>T	NP_783653.1:p.Val624Leu
XM_011510379.1:c.2386+7185G>T	XP_011508681.1:n.2386+7185G>T
XM_011510380.1:c.2389G>T	XP_011508682.1:p.Val797Leu
XM_011510381.1:c.2215+7185G>T	XP_011508683.1:n.2215+7185G>T
XR_922681.1:n.2390G>T
XM_011510380.3:c.2425G>T	XP_011508682.2:p.Val809Leu
XM_024453085.1:c.2422+7185G>T	XP_024308853.1:n.2422+7185G>T
XM_024453086.1:c.2425G>T	XP_024308854.1:p.Val809Leu
XM_024453087.1:c.2386+7185G>T	XP_024308855.1:n.2386+7185G>T
XM_024453088.1:c.2386+7185G>T	XP_024308856.1:n.2386+7185G>T
XM_024453089.1:c.2386+7185G>T	XP_024308857.1:n.2386+7185G>T
XM_024453090.1:c.2422+7185G>T	XP_024308858.1:n.2422+7185G>T
XM_024453091.1:c.2254G>T	XP_024308859.1:p.Val752Leu
XM_024453092.1:c.2251+7185G>T	XP_024308860.1:n.2251+7185G>T
XM_024453093.1:c.1906G>T	XP_024308861.1:p.Val636Leu
NM_001206744.2:c.2389G>T MANE Select	NP_001193673.1:p.Val797Leu
NM_000547.6:c.2389G>T	NP_000538.3:p.Val797Leu
NM_001206745.2:c.2218G>T	NP_001193674.1:p.Val740Leu
NM_175719.4:c.2218G>T	NP_783650.1:p.Val740Leu