Canonical Allele Identifier: CA424501126

Gene: TPO

Linked Data

• ClinVar Variation Id: 2844851
• ClinVar RCV Id: RCV003719217
• MyVariant Identifiers: chr2:g.1507814C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1504042C>T , CM000664.2:g.1504042C>T	GRCh38
NC_000002.11:g.1507814C>T , CM000664.1:g.1507814C>T	GRCh37
NC_000002.10:g.1486821C>T	NCBI36
NG_011581.1:g.95580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2481C>T MANE Select	ENSP00000329869.4:p.Asp827=
ENST00000329066.8:c.2481C>T	ENSP00000329869.4:p.Asp827=
ENST00000345913.8:c.2481C>T	ENSP00000318820.7:p.Asp827=
ENST00000346956.7:c.2386+7277C>T	ENSP00000263886.6:n.2386+7277C>T
ENST00000382198.5:c.1962C>T	ENSP00000371633.1:p.Asp654=
ENST00000382201.7:c.2310C>T	ENSP00000371636.3:p.Asp770=
ENST00000422464.5:c.2173+7277C>T	ENSP00000405788.1:n.2173+7277C>T
ENST00000425083.3:n.144C>T
ENST00000446278.5:c.905C>T
ENST00000462973.5:n.424+10003C>T
ENST00000469607.3:c.808+7277C>T	ENSP00000419461.1:n.808+7277C>T
ENST00000497517.6:n.772C>T
NM_000547.5:c.2481C>T	NP_000538.3:p.Asp827=
NM_001206744.1:c.2481C>T	NP_001193673.1:p.Asp827=
NM_001206745.1:c.2310C>T	NP_001193674.1:p.Asp770=
NM_175719.3:c.2310C>T	NP_783650.1:p.Asp770=
NM_175721.3:c.2386+7277C>T	NP_783652.1:n.2386+7277C>T
NM_175722.3:c.1962C>T	NP_783653.1:p.Asp654=
XM_011510379.1:c.2386+7277C>T	XP_011508681.1:n.2386+7277C>T
XM_011510380.1:c.2481C>T	XP_011508682.1:p.Asp827=
XM_011510381.1:c.2215+7277C>T	XP_011508683.1:n.2215+7277C>T
XR_922681.1:n.2482C>T
XM_011510380.3:c.2517C>T	XP_011508682.2:p.Asp839=
XM_024453085.1:c.2422+7277C>T	XP_024308853.1:n.2422+7277C>T
XM_024453086.1:c.2517C>T	XP_024308854.1:p.Asp839=
XM_024453087.1:c.2386+7277C>T	XP_024308855.1:n.2386+7277C>T
XM_024453088.1:c.2386+7277C>T	XP_024308856.1:n.2386+7277C>T
XM_024453089.1:c.2386+7277C>T	XP_024308857.1:n.2386+7277C>T
XM_024453090.1:c.2422+7277C>T	XP_024308858.1:n.2422+7277C>T
XM_024453091.1:c.2346C>T	XP_024308859.1:p.Asp782=
XM_024453092.1:c.2251+7277C>T	XP_024308860.1:n.2251+7277C>T
XM_024453093.1:c.1998C>T	XP_024308861.1:p.Asp666=
NM_001206744.2:c.2481C>T MANE Select	NP_001193673.1:p.Asp827=
NM_000547.6:c.2481C>T	NP_000538.3:p.Asp827=
NM_001206745.2:c.2310C>T	NP_001193674.1:p.Asp770=
NM_175719.4:c.2310C>T	NP_783650.1:p.Asp770=