Canonical Allele Identifier: CA345695933

Gene: TPO

Linked Data

• MyVariant Identifiers: chr2:g.1491725C>T (hg19) ; chr2:g.1487953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1487953C>T , CM000664.2:g.1487953C>T	GRCh38
NC_000002.11:g.1491725C>T , CM000664.1:g.1491725C>T	GRCh37
NC_000002.10:g.1470732C>T	NCBI36
NG_011581.1:g.79491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1730C>T MANE Select	ENSP00000329869.4:p.Ser577Phe
ENST00000329066.8:c.1730C>T	ENSP00000329869.4:p.Ser577Phe
ENST00000345913.8:c.1730C>T	ENSP00000318820.7:p.Ser577Phe
ENST00000346956.7:c.1730C>T	ENSP00000263886.6:p.Ser577Phe
ENST00000382198.5:c.1211C>T	ENSP00000371633.1:p.Ser404Phe
ENST00000382201.7:c.1597+3099C>T	ENSP00000371636.3:n.1597+3099C>T
ENST00000422464.5:c.1517C>T	ENSP00000405788.1:p.Ser506Phe
ENST00000446278.5:c.192+3099C>T
ENST00000462973.5:n.186+3099C>T
ENST00000469607.3:c.190+3099C>T	ENSP00000419461.1:n.190+3099C>T
ENST00000497517.6:n.439+3099C>T
NM_000547.5:c.1730C>T	NP_000538.3:p.Ser577Phe
NM_001206744.1:c.1730C>T	NP_001193673.1:p.Ser577Phe
NM_001206745.1:c.1597+3099C>T	NP_001193674.1:n.1597+3099C>T
NM_175719.3:c.1597+3099C>T	NP_783650.1:n.1597+3099C>T
NM_175721.3:c.1730C>T	NP_783652.1:p.Ser577Phe
NM_175722.3:c.1211C>T	NP_783653.1:p.Ser404Phe
XM_011510379.1:c.1730C>T	XP_011508681.1:p.Ser577Phe
XM_011510380.1:c.1730C>T	XP_011508682.1:p.Ser577Phe
XM_011510381.1:c.1597+3099C>T	XP_011508683.1:n.1597+3099C>T
XR_922681.1:n.1731C>T
XM_011510380.3:c.1766C>T	XP_011508682.2:p.Ser589Phe
XM_024453085.1:c.1766C>T	XP_024308853.1:p.Ser589Phe
XM_024453086.1:c.1766C>T	XP_024308854.1:p.Ser589Phe
XM_024453087.1:c.1730C>T	XP_024308855.1:p.Ser577Phe
XM_024453088.1:c.1730C>T	XP_024308856.1:p.Ser577Phe
XM_024453089.1:c.1730C>T	XP_024308857.1:p.Ser577Phe
XM_024453090.1:c.1766C>T	XP_024308858.1:p.Ser589Phe
XM_024453091.1:c.1633+3099C>T	XP_024308859.1:n.1633+3099C>T
XM_024453092.1:c.1633+3099C>T	XP_024308860.1:n.1633+3099C>T
XM_024453093.1:c.1247C>T	XP_024308861.1:p.Ser416Phe
NM_001206744.2:c.1730C>T MANE Select	NP_001193673.1:p.Ser577Phe
NM_000547.6:c.1730C>T	NP_000538.3:p.Ser577Phe
NM_001206745.2:c.1597+3099C>T	NP_001193674.1:n.1597+3099C>T
NM_175719.4:c.1597+3099C>T	NP_783650.1:n.1597+3099C>T