Canonical Allele Identifier: CA1511951

Gene: TPO

Linked Data

• ClinVar Variation Id: 2713102
• ClinVar RCV Id: RCV003548270
• dbSNP Id: rs764783092
• ExAC: 2:1499839 C / T
• gnomAD v2: 2-1499839-C-T
• gnomAD v4: 2-1496067-C-T
• MyVariant Identifiers: chr2:g.1499839C>T (hg19) ; chr2:g.1496067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1496067C>T , CM000664.2:g.1496067C>T	GRCh38
NC_000002.11:g.1499839C>T , CM000664.1:g.1499839C>T	GRCh37
NC_000002.10:g.1478846C>T	NCBI36
NG_011581.1:g.87605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329066.9:c.2085C>T MANE Select	ENSP00000329869.4:p.Ile695=
ENST00000329066.8:c.2085C>T	ENSP00000329869.4:p.Ile695=
ENST00000345913.8:c.2085C>T	ENSP00000318820.7:p.Ile695=
ENST00000346956.7:c.2085C>T	ENSP00000263886.6:p.Ile695=
ENST00000382198.5:c.1566C>T	ENSP00000371633.1:p.Ile522=
ENST00000382201.7:c.1914C>T	ENSP00000371636.3:p.Ile638=
ENST00000422464.5:c.1872C>T	ENSP00000405788.1:p.Ile624=
ENST00000446278.5:c.509C>T
ENST00000462973.5:n.424+2028C>T
ENST00000469607.3:c.507C>T	ENSP00000419461.1:p.Ile169=
ENST00000497517.6:n.677+2028C>T
NM_000547.5:c.2085C>T	NP_000538.3:p.Ile695=
NM_001206744.1:c.2085C>T	NP_001193673.1:p.Ile695=
NM_001206745.1:c.1914C>T	NP_001193674.1:p.Ile638=
NM_175719.3:c.1914C>T	NP_783650.1:p.Ile638=
NM_175721.3:c.2085C>T	NP_783652.1:p.Ile695=
NM_175722.3:c.1566C>T	NP_783653.1:p.Ile522=
XM_011510379.1:c.2085C>T	XP_011508681.1:p.Ile695=
XM_011510380.1:c.2085C>T	XP_011508682.1:p.Ile695=
XM_011510381.1:c.1914C>T	XP_011508683.1:p.Ile638=
XR_922681.1:n.2086C>T
XM_011510380.3:c.2121C>T	XP_011508682.2:p.Ile707=
XM_024453085.1:c.2121C>T	XP_024308853.1:p.Ile707=
XM_024453086.1:c.2121C>T	XP_024308854.1:p.Ile707=
XM_024453087.1:c.2085C>T	XP_024308855.1:p.Ile695=
XM_024453088.1:c.2085C>T	XP_024308856.1:p.Ile695=
XM_024453089.1:c.2085C>T	XP_024308857.1:p.Ile695=
XM_024453090.1:c.2121C>T	XP_024308858.1:p.Ile707=
XM_024453091.1:c.1950C>T	XP_024308859.1:p.Ile650=
XM_024453092.1:c.1950C>T	XP_024308860.1:p.Ile650=
XM_024453093.1:c.1602C>T	XP_024308861.1:p.Ile534=
NM_001206744.2:c.2085C>T MANE Select	NP_001193673.1:p.Ile695=
NM_000547.6:c.2085C>T	NP_000538.3:p.Ile695=
NM_001206745.2:c.1914C>T	NP_001193674.1:p.Ile638=
NM_175719.4:c.1914C>T	NP_783650.1:p.Ile638=