Canonical Allele Identifier: CA345694500

Gene: TPO

Linked Data

• gnomAD v4: 2-1477414-G-T
• COSMIC: COSM5735936 ; COSM5735937
• MyVariant Identifiers: chr2:g.1481186G>T (hg19) ; chr2:g.1477414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477414G>T , CM000664.2:g.1477414G>T	GRCh38
NC_000002.11:g.1481186G>T , CM000664.1:g.1481186G>T	GRCh37
NC_000002.10:g.1460193G>T	NCBI36
NG_011581.1:g.68952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1148G>T MANE Select	ENSP00000329869.4:p.Gly383Val
ENST00000329066.8:c.1148G>T	ENSP00000329869.4:p.Gly383Val
ENST00000345913.8:c.1148G>T	ENSP00000318820.7:p.Gly383Val
ENST00000346956.7:c.1148G>T	ENSP00000263886.6:p.Gly383Val
ENST00000382198.5:c.820-7182G>T	ENSP00000371633.1:n.820-7182G>T
ENST00000382201.7:c.1148G>T	ENSP00000371636.3:p.Gly383Val
ENST00000422464.5:c.935G>T	ENSP00000405788.1:p.Gly312Val
ENST00000497517.6:n.181-7182G>T
NM_000547.5:c.1148G>T	NP_000538.3:p.Gly383Val
NM_001206744.1:c.1148G>T	NP_001193673.1:p.Gly383Val
NM_001206745.1:c.1148G>T	NP_001193674.1:p.Gly383Val
NM_175719.3:c.1148G>T	NP_783650.1:p.Gly383Val
NM_175721.3:c.1148G>T	NP_783652.1:p.Gly383Val
NM_175722.3:c.820-7182G>T	NP_783653.1:n.820-7182G>T
XM_011510379.1:c.1148G>T	XP_011508681.1:p.Gly383Val
XM_011510380.1:c.1148G>T	XP_011508682.1:p.Gly383Val
XM_011510381.1:c.1148G>T	XP_011508683.1:p.Gly383Val
XM_011510382.1:c.1148G>T	XP_011508684.1:p.Gly383Val
XR_922681.1:n.1149G>T
XM_011510380.3:c.1184G>T	XP_011508682.2:p.Gly395Val
XM_024453085.1:c.1184G>T	XP_024308853.1:p.Gly395Val
XM_024453086.1:c.1184G>T	XP_024308854.1:p.Gly395Val
XM_024453087.1:c.1148G>T	XP_024308855.1:p.Gly383Val
XM_024453088.1:c.1148G>T	XP_024308856.1:p.Gly383Val
XM_024453089.1:c.1148G>T	XP_024308857.1:p.Gly383Val
XM_024453090.1:c.1184G>T	XP_024308858.1:p.Gly395Val
XM_024453091.1:c.1184G>T	XP_024308859.1:p.Gly395Val
XM_024453092.1:c.1184G>T	XP_024308860.1:p.Gly395Val
XM_024453093.1:c.856-7182G>T	XP_024308861.1:n.856-7182G>T
NM_001206744.2:c.1148G>T MANE Select	NP_001193673.1:p.Gly383Val
NM_000547.6:c.1148G>T	NP_000538.3:p.Gly383Val
NM_001206745.2:c.1148G>T	NP_001193674.1:p.Gly383Val
NM_175719.4:c.1148G>T	NP_783650.1:p.Gly383Val