Canonical Allele Identifier: CA345693493

Gene: TPO

Linked Data

• MyVariant Identifiers: chr2:g.1507787A>C (hg19) ; chr2:g.1504015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1504015A>C , CM000664.2:g.1504015A>C	GRCh38
NC_000002.11:g.1507787A>C , CM000664.1:g.1507787A>C	GRCh37
NC_000002.10:g.1486794A>C	NCBI36
NG_011581.1:g.95553A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2454A>C MANE Select	ENSP00000329869.4:p.Lys818Asn
ENST00000329066.8:c.2454A>C	ENSP00000329869.4:p.Lys818Asn
ENST00000345913.8:c.2454A>C	ENSP00000318820.7:p.Lys818Asn
ENST00000346956.7:c.2386+7250A>C	ENSP00000263886.6:n.2386+7250A>C
ENST00000382198.5:c.1935A>C	ENSP00000371633.1:p.Lys645Asn
ENST00000382201.7:c.2283A>C	ENSP00000371636.3:p.Lys761Asn
ENST00000422464.5:c.2173+7250A>C	ENSP00000405788.1:n.2173+7250A>C
ENST00000425083.3:n.117A>C
ENST00000446278.5:c.878A>C
ENST00000462973.5:n.424+9976A>C
ENST00000469607.3:c.808+7250A>C	ENSP00000419461.1:n.808+7250A>C
ENST00000497517.6:n.745A>C
NM_000547.5:c.2454A>C	NP_000538.3:p.Lys818Asn
NM_001206744.1:c.2454A>C	NP_001193673.1:p.Lys818Asn
NM_001206745.1:c.2283A>C	NP_001193674.1:p.Lys761Asn
NM_175719.3:c.2283A>C	NP_783650.1:p.Lys761Asn
NM_175721.3:c.2386+7250A>C	NP_783652.1:n.2386+7250A>C
NM_175722.3:c.1935A>C	NP_783653.1:p.Lys645Asn
XM_011510379.1:c.2386+7250A>C	XP_011508681.1:n.2386+7250A>C
XM_011510380.1:c.2454A>C	XP_011508682.1:p.Lys818Asn
XM_011510381.1:c.2215+7250A>C	XP_011508683.1:n.2215+7250A>C
XR_922681.1:n.2455A>C
XM_011510380.3:c.2490A>C	XP_011508682.2:p.Lys830Asn
XM_024453085.1:c.2422+7250A>C	XP_024308853.1:n.2422+7250A>C
XM_024453086.1:c.2490A>C	XP_024308854.1:p.Lys830Asn
XM_024453087.1:c.2386+7250A>C	XP_024308855.1:n.2386+7250A>C
XM_024453088.1:c.2386+7250A>C	XP_024308856.1:n.2386+7250A>C
XM_024453089.1:c.2386+7250A>C	XP_024308857.1:n.2386+7250A>C
XM_024453090.1:c.2422+7250A>C	XP_024308858.1:n.2422+7250A>C
XM_024453091.1:c.2319A>C	XP_024308859.1:p.Lys773Asn
XM_024453092.1:c.2251+7250A>C	XP_024308860.1:n.2251+7250A>C
XM_024453093.1:c.1971A>C	XP_024308861.1:p.Lys657Asn
NM_001206744.2:c.2454A>C MANE Select	NP_001193673.1:p.Lys818Asn
NM_000547.6:c.2454A>C	NP_000538.3:p.Lys818Asn
NM_001206745.2:c.2283A>C	NP_001193674.1:p.Lys761Asn
NM_175719.4:c.2283A>C	NP_783650.1:p.Lys761Asn