Canonical Allele Identifier: CA345697748

Gene: TPO

Linked Data

• ClinVar Variation Id: 2979940
• ClinVar RCV Id: RCV003835050
• dbSNP Id: rs1239225665
• gnomAD v4: 2-1496026-C-T
• COSMIC: COSM4085378 ; COSM4085379
• MyVariant Identifiers: chr2:g.1499798C>T (hg19) ; chr2:g.1496026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1496026C>T , CM000664.2:g.1496026C>T	GRCh38
NC_000002.11:g.1499798C>T , CM000664.1:g.1499798C>T	GRCh37
NC_000002.10:g.1478805C>T	NCBI36
NG_011581.1:g.87564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2044C>T MANE Select	ENSP00000329869.4:p.Gln682Ter
ENST00000329066.8:c.2044C>T	ENSP00000329869.4:p.Gln682Ter
ENST00000345913.8:c.2044C>T	ENSP00000318820.7:p.Gln682Ter
ENST00000346956.7:c.2044C>T	ENSP00000263886.6:p.Gln682Ter
ENST00000382198.5:c.1525C>T	ENSP00000371633.1:p.Gln509Ter
ENST00000382201.7:c.1873C>T	ENSP00000371636.3:p.Gln625Ter
ENST00000422464.5:c.1831C>T	ENSP00000405788.1:p.Gln611Ter
ENST00000446278.5:c.468C>T
ENST00000462973.5:n.424+1987C>T
ENST00000469607.3:c.466C>T	ENSP00000419461.1:p.Gln156Ter
ENST00000497517.6:n.677+1987C>T
NM_000547.5:c.2044C>T	NP_000538.3:p.Gln682Ter
NM_001206744.1:c.2044C>T	NP_001193673.1:p.Gln682Ter
NM_001206745.1:c.1873C>T	NP_001193674.1:p.Gln625Ter
NM_175719.3:c.1873C>T	NP_783650.1:p.Gln625Ter
NM_175721.3:c.2044C>T	NP_783652.1:p.Gln682Ter
NM_175722.3:c.1525C>T	NP_783653.1:p.Gln509Ter
XM_011510379.1:c.2044C>T	XP_011508681.1:p.Gln682Ter
XM_011510380.1:c.2044C>T	XP_011508682.1:p.Gln682Ter
XM_011510381.1:c.1873C>T	XP_011508683.1:p.Gln625Ter
XR_922681.1:n.2045C>T
XM_011510380.3:c.2080C>T	XP_011508682.2:p.Gln694Ter
XM_024453085.1:c.2080C>T	XP_024308853.1:p.Gln694Ter
XM_024453086.1:c.2080C>T	XP_024308854.1:p.Gln694Ter
XM_024453087.1:c.2044C>T	XP_024308855.1:p.Gln682Ter
XM_024453088.1:c.2044C>T	XP_024308856.1:p.Gln682Ter
XM_024453089.1:c.2044C>T	XP_024308857.1:p.Gln682Ter
XM_024453090.1:c.2080C>T	XP_024308858.1:p.Gln694Ter
XM_024453091.1:c.1909C>T	XP_024308859.1:p.Gln637Ter
XM_024453092.1:c.1909C>T	XP_024308860.1:p.Gln637Ter
XM_024453093.1:c.1561C>T	XP_024308861.1:p.Gln521Ter
NM_001206744.2:c.2044C>T MANE Select	NP_001193673.1:p.Gln682Ter
NM_000547.6:c.2044C>T	NP_000538.3:p.Gln682Ter
NM_001206745.2:c.1873C>T	NP_001193674.1:p.Gln625Ter
NM_175719.4:c.1873C>T	NP_783650.1:p.Gln625Ter