Canonical Allele Identifier: CA345693504

Gene: TPO

Linked Data

• gnomAD v4: 2-1504022-T-C
• MyVariant Identifiers: chr2:g.1507794T>C (hg19) ; chr2:g.1504022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1504022T>C , CM000664.2:g.1504022T>C	GRCh38
NC_000002.11:g.1507794T>C , CM000664.1:g.1507794T>C	GRCh37
NC_000002.10:g.1486801T>C	NCBI36
NG_011581.1:g.95560T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2461T>C MANE Select	ENSP00000329869.4:p.Phe821Leu
ENST00000329066.8:c.2461T>C	ENSP00000329869.4:p.Phe821Leu
ENST00000345913.8:c.2461T>C	ENSP00000318820.7:p.Phe821Leu
ENST00000346956.7:c.2386+7257T>C	ENSP00000263886.6:n.2386+7257T>C
ENST00000382198.5:c.1942T>C	ENSP00000371633.1:p.Phe648Leu
ENST00000382201.7:c.2290T>C	ENSP00000371636.3:p.Phe764Leu
ENST00000422464.5:c.2173+7257T>C	ENSP00000405788.1:n.2173+7257T>C
ENST00000425083.3:n.124T>C
ENST00000446278.5:c.885T>C
ENST00000462973.5:n.424+9983T>C
ENST00000469607.3:c.808+7257T>C	ENSP00000419461.1:n.808+7257T>C
ENST00000497517.6:n.752T>C
NM_000547.5:c.2461T>C	NP_000538.3:p.Phe821Leu
NM_001206744.1:c.2461T>C	NP_001193673.1:p.Phe821Leu
NM_001206745.1:c.2290T>C	NP_001193674.1:p.Phe764Leu
NM_175719.3:c.2290T>C	NP_783650.1:p.Phe764Leu
NM_175721.3:c.2386+7257T>C	NP_783652.1:n.2386+7257T>C
NM_175722.3:c.1942T>C	NP_783653.1:p.Phe648Leu
XM_011510379.1:c.2386+7257T>C	XP_011508681.1:n.2386+7257T>C
XM_011510380.1:c.2461T>C	XP_011508682.1:p.Phe821Leu
XM_011510381.1:c.2215+7257T>C	XP_011508683.1:n.2215+7257T>C
XR_922681.1:n.2462T>C
XM_011510380.3:c.2497T>C	XP_011508682.2:p.Phe833Leu
XM_024453085.1:c.2422+7257T>C	XP_024308853.1:n.2422+7257T>C
XM_024453086.1:c.2497T>C	XP_024308854.1:p.Phe833Leu
XM_024453087.1:c.2386+7257T>C	XP_024308855.1:n.2386+7257T>C
XM_024453088.1:c.2386+7257T>C	XP_024308856.1:n.2386+7257T>C
XM_024453089.1:c.2386+7257T>C	XP_024308857.1:n.2386+7257T>C
XM_024453090.1:c.2422+7257T>C	XP_024308858.1:n.2422+7257T>C
XM_024453091.1:c.2326T>C	XP_024308859.1:p.Phe776Leu
XM_024453092.1:c.2251+7257T>C	XP_024308860.1:n.2251+7257T>C
XM_024453093.1:c.1978T>C	XP_024308861.1:p.Phe660Leu
NM_001206744.2:c.2461T>C MANE Select	NP_001193673.1:p.Phe821Leu
NM_000547.6:c.2461T>C	NP_000538.3:p.Phe821Leu
NM_001206745.2:c.2290T>C	NP_001193674.1:p.Phe764Leu
NM_175719.4:c.2290T>C	NP_783650.1:p.Phe764Leu