Canonical Allele Identifier: CA345693447

Gene: TPO

Linked Data

• dbSNP Id: rs1188497225
• gnomAD v2: 2-1507765-C-T
• gnomAD v4: 2-1503993-C-T
• MyVariant Identifiers: chr2:g.1507765C>T (hg19) ; chr2:g.1503993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1503993C>T , CM000664.2:g.1503993C>T	GRCh38
NC_000002.11:g.1507765C>T , CM000664.1:g.1507765C>T	GRCh37
NC_000002.10:g.1486772C>T	NCBI36
NG_011581.1:g.95531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2432C>T MANE Select	ENSP00000329869.4:p.Ser811Phe
ENST00000329066.8:c.2432C>T	ENSP00000329869.4:p.Ser811Phe
ENST00000345913.8:c.2432C>T	ENSP00000318820.7:p.Ser811Phe
ENST00000346956.7:c.2386+7228C>T	ENSP00000263886.6:n.2386+7228C>T
ENST00000382198.5:c.1913C>T	ENSP00000371633.1:p.Ser638Phe
ENST00000382201.7:c.2261C>T	ENSP00000371636.3:p.Ser754Phe
ENST00000422464.5:c.2173+7228C>T	ENSP00000405788.1:n.2173+7228C>T
ENST00000425083.3:n.95C>T
ENST00000446278.5:c.856C>T
ENST00000462973.5:n.424+9954C>T
ENST00000469607.3:c.808+7228C>T	ENSP00000419461.1:n.808+7228C>T
ENST00000497517.6:n.723C>T
NM_000547.5:c.2432C>T	NP_000538.3:p.Ser811Phe
NM_001206744.1:c.2432C>T	NP_001193673.1:p.Ser811Phe
NM_001206745.1:c.2261C>T	NP_001193674.1:p.Ser754Phe
NM_175719.3:c.2261C>T	NP_783650.1:p.Ser754Phe
NM_175721.3:c.2386+7228C>T	NP_783652.1:n.2386+7228C>T
NM_175722.3:c.1913C>T	NP_783653.1:p.Ser638Phe
XM_011510379.1:c.2386+7228C>T	XP_011508681.1:n.2386+7228C>T
XM_011510380.1:c.2432C>T	XP_011508682.1:p.Ser811Phe
XM_011510381.1:c.2215+7228C>T	XP_011508683.1:n.2215+7228C>T
XR_922681.1:n.2433C>T
XM_011510380.3:c.2468C>T	XP_011508682.2:p.Ser823Phe
XM_024453085.1:c.2422+7228C>T	XP_024308853.1:n.2422+7228C>T
XM_024453086.1:c.2468C>T	XP_024308854.1:p.Ser823Phe
XM_024453087.1:c.2386+7228C>T	XP_024308855.1:n.2386+7228C>T
XM_024453088.1:c.2386+7228C>T	XP_024308856.1:n.2386+7228C>T
XM_024453089.1:c.2386+7228C>T	XP_024308857.1:n.2386+7228C>T
XM_024453090.1:c.2422+7228C>T	XP_024308858.1:n.2422+7228C>T
XM_024453091.1:c.2297C>T	XP_024308859.1:p.Ser766Phe
XM_024453092.1:c.2251+7228C>T	XP_024308860.1:n.2251+7228C>T
XM_024453093.1:c.1949C>T	XP_024308861.1:p.Ser650Phe
NM_001206744.2:c.2432C>T MANE Select	NP_001193673.1:p.Ser811Phe
NM_000547.6:c.2432C>T	NP_000538.3:p.Ser811Phe
NM_001206745.2:c.2261C>T	NP_001193674.1:p.Ser754Phe
NM_175719.4:c.2261C>T	NP_783650.1:p.Ser754Phe