Canonical Allele Identifier: CA1512234

Gene: TPO

Linked Data

• ClinVar Variation Id: 225496
• ClinVar RCV Id: RCV000490259 ; RCV000895932
• dbSNP Id: rs190968346
• ExAC: 2:1544394 C / T
• gnomAD v2: 2-1544394-C-T
• gnomAD v3: 2-1540622-C-T
• gnomAD v4: 2-1540622-C-T
• MyVariant Identifiers: chr2:g.1544394C>T (hg19) ; chr2:g.1540622C>T (hg38)
• PubMed: PMID:15055360

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1540622C>T , CM000664.2:g.1540622C>T	GRCh38
NC_000002.11:g.1544394C>T , CM000664.1:g.1544394C>T	GRCh37
NC_000002.10:g.1523401C>T	NCBI36
NG_011581.1:g.132160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329066.9:c.2647C>T MANE Select	ENSP00000329869.4:p.Pro883Ser
ENST00000329066.8:c.2647C>T	ENSP00000329869.4:p.Pro883Ser
ENST00000345913.8:c.2647C>T	ENSP00000318820.7:p.Pro883Ser
ENST00000346956.7:c.2515C>T	ENSP00000263886.6:p.Pro839Ser
ENST00000382198.5:c.2128C>T	ENSP00000371633.1:p.Pro710Ser
ENST00000382201.7:c.2476C>T	ENSP00000371636.3:p.Pro826Ser
ENST00000422464.5:c.2302C>T	ENSP00000405788.1:p.Pro768Ser
ENST00000425083.3:n.310C>T
ENST00000446278.5:c.1043-1799C>T
ENST00000469607.3:c.937C>T	ENSP00000419461.1:p.Pro313Ser
ENST00000479902.1:n.273-1799C>T
ENST00000497517.6:n.910-1799C>T
NM_000547.5:c.2647C>T	NP_000538.3:p.Pro883Ser
NM_001206744.1:c.2647C>T	NP_001193673.1:p.Pro883Ser
NM_001206745.1:c.2476C>T	NP_001193674.1:p.Pro826Ser
NM_175719.3:c.2476C>T	NP_783650.1:p.Pro826Ser
NM_175721.3:c.2515C>T	NP_783652.1:p.Pro839Ser
NM_175722.3:c.2128C>T	NP_783653.1:p.Pro710Ser
XM_011510379.1:c.2515C>T	XP_011508681.1:p.Pro839Ser
XM_011510380.1:c.2619-1799C>T	XP_011508682.1:n.2619-1799C>T
XM_011510381.1:c.2344C>T	XP_011508683.1:p.Pro782Ser
XR_922681.1:n.3834-1799C>T
XM_011510380.3:c.2655-1799C>T	XP_011508682.2:n.2655-1799C>T
XM_024453085.1:c.2551C>T	XP_024308853.1:p.Pro851Ser
XM_024453086.1:c.2683C>T	XP_024308854.1:p.Pro895Ser
XM_024453087.1:c.2515C>T	XP_024308855.1:p.Pro839Ser
XM_024453088.1:c.2515C>T	XP_024308856.1:p.Pro839Ser
XM_024453089.1:c.2515C>T	XP_024308857.1:p.Pro839Ser
XM_024453090.1:c.2551C>T	XP_024308858.1:p.Pro851Ser
XM_024453091.1:c.2512C>T	XP_024308859.1:p.Pro838Ser
XM_024453092.1:c.2380C>T	XP_024308860.1:p.Pro794Ser
XM_024453093.1:c.2164C>T	XP_024308861.1:p.Pro722Ser
NM_001206744.2:c.2647C>T MANE Select	NP_001193673.1:p.Pro883Ser
NM_000547.6:c.2647C>T	NP_000538.3:p.Pro883Ser
NM_001206745.2:c.2476C>T	NP_001193674.1:p.Pro826Ser
NM_175719.4:c.2476C>T	NP_783650.1:p.Pro826Ser