Canonical Allele Identifier: CA345693530

Gene: TPO

Linked Data

• MyVariant Identifiers: chr2:g.1507804T>G (hg19) ; chr2:g.1504032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1504032T>G , CM000664.2:g.1504032T>G	GRCh38
NC_000002.11:g.1507804T>G , CM000664.1:g.1507804T>G	GRCh37
NC_000002.10:g.1486811T>G	NCBI36
NG_011581.1:g.95570T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2471T>G MANE Select	ENSP00000329869.4:p.Leu824Arg
ENST00000329066.8:c.2471T>G	ENSP00000329869.4:p.Leu824Arg
ENST00000345913.8:c.2471T>G	ENSP00000318820.7:p.Leu824Arg
ENST00000346956.7:c.2386+7267T>G	ENSP00000263886.6:n.2386+7267T>G
ENST00000382198.5:c.1952T>G	ENSP00000371633.1:p.Leu651Arg
ENST00000382201.7:c.2300T>G	ENSP00000371636.3:p.Leu767Arg
ENST00000422464.5:c.2173+7267T>G	ENSP00000405788.1:n.2173+7267T>G
ENST00000425083.3:n.134T>G
ENST00000446278.5:c.895T>G
ENST00000462973.5:n.424+9993T>G
ENST00000469607.3:c.808+7267T>G	ENSP00000419461.1:n.808+7267T>G
ENST00000497517.6:n.762T>G
NM_000547.5:c.2471T>G	NP_000538.3:p.Leu824Arg
NM_001206744.1:c.2471T>G	NP_001193673.1:p.Leu824Arg
NM_001206745.1:c.2300T>G	NP_001193674.1:p.Leu767Arg
NM_175719.3:c.2300T>G	NP_783650.1:p.Leu767Arg
NM_175721.3:c.2386+7267T>G	NP_783652.1:n.2386+7267T>G
NM_175722.3:c.1952T>G	NP_783653.1:p.Leu651Arg
XM_011510379.1:c.2386+7267T>G	XP_011508681.1:n.2386+7267T>G
XM_011510380.1:c.2471T>G	XP_011508682.1:p.Leu824Arg
XM_011510381.1:c.2215+7267T>G	XP_011508683.1:n.2215+7267T>G
XR_922681.1:n.2472T>G
XM_011510380.3:c.2507T>G	XP_011508682.2:p.Leu836Arg
XM_024453085.1:c.2422+7267T>G	XP_024308853.1:n.2422+7267T>G
XM_024453086.1:c.2507T>G	XP_024308854.1:p.Leu836Arg
XM_024453087.1:c.2386+7267T>G	XP_024308855.1:n.2386+7267T>G
XM_024453088.1:c.2386+7267T>G	XP_024308856.1:n.2386+7267T>G
XM_024453089.1:c.2386+7267T>G	XP_024308857.1:n.2386+7267T>G
XM_024453090.1:c.2422+7267T>G	XP_024308858.1:n.2422+7267T>G
XM_024453091.1:c.2336T>G	XP_024308859.1:p.Leu779Arg
XM_024453092.1:c.2251+7267T>G	XP_024308860.1:n.2251+7267T>G
XM_024453093.1:c.1988T>G	XP_024308861.1:p.Leu663Arg
NM_001206744.2:c.2471T>G MANE Select	NP_001193673.1:p.Leu824Arg
NM_000547.6:c.2471T>G	NP_000538.3:p.Leu824Arg
NM_001206745.2:c.2300T>G	NP_001193674.1:p.Leu767Arg
NM_175719.4:c.2300T>G	NP_783650.1:p.Leu767Arg