Canonical Allele Identifier: CA129341

Gene: TPK1

Linked Data

• ClinVar Variation Id: 30572
• ClinVar RCV Id: RCV000023535 ; RCV000437841 ; RCV002513193
• dbSNP Id: rs371271054
• ExAC: 7:144150714 T / C
• gnomAD v2: 7-144150714-T-C
• gnomAD v3: 7-144453621-T-C
• gnomAD v4: 7-144453621-T-C
• MyVariant Identifiers: chr7:g.144150714T>C (hg19) ; chr7:g.144453621T>C (hg38)
• PubMed: PMID:22152682

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.144453621T>C , CM000669.2:g.144453621T>C	GRCh38
NC_000007.13:g.144150714T>C , CM000669.1:g.144150714T>C	GRCh37
NC_000007.12:g.143781647T>C	NCBI36
NG_032112.1:g.387433A>G
NG_032112.2:g.387433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360057.7:c.656A>G MANE Select	ENSP00000353165.3:p.Asn219Ser
ENST00000378098.8:c.*412A>G	ENSP00000367338.4:n.*412A>G
ENST00000378099.7:c.509A>G	ENSP00000367339.3:p.Asn170Ser
ENST00000482940.5:c.*687A>G	ENSP00000449909.1:n.*687A>G
ENST00000538212.6:c.494A>G	ENSP00000438813.2:p.Asn165Ser
ENST00000547966.5:n.554A>G
NM_001042482.1:c.509A>G	NP_001035947.1:p.Asn170Ser
NM_022445.3:c.656A>G	NP_071890.2:p.Asn219Ser
XM_005249970.1:c.656A>G	XP_005250027.1:p.Asn219Ser
XM_006715925.2:c.338A>G	XP_006715988.1:p.Asn113Ser
XM_011516031.1:c.734A>G	XP_011514333.1:p.Asn245Ser
XM_011516032.1:c.734A>G	XP_011514334.1:p.Asn245Ser
XM_011516033.1:c.734A>G	XP_011514335.1:p.Asn245Ser
XM_011516034.1:c.734A>G	XP_011514336.1:p.Asn245Ser
XM_011516035.1:c.*36A>G	XP_011514337.1:n.*36A>G
XM_011516036.1:c.719A>G	XP_011514338.1:p.Asn240Ser
XM_011516037.1:c.719A>G	XP_011514339.1:p.Asn240Ser
XM_011516038.1:c.719A>G	XP_011514340.1:p.Asn240Ser
XM_011516039.1:c.656A>G	XP_011514341.1:p.Asn219Ser
XM_011516041.1:c.641A>G	XP_011514343.1:p.Asn214Ser
XM_011516043.1:c.587A>G	XP_011514345.1:p.Asn196Ser
XM_011516044.1:c.494A>G	XP_011514346.1:p.Asn165Ser
XM_011516045.1:c.416A>G	XP_011514347.1:p.Asn139Ser
XM_011516047.1:c.338A>G	XP_011514349.1:p.Asn113Ser
XM_011516048.1:c.338A>G	XP_011514350.1:p.Asn113Ser
XM_011516049.1:c.338A>G	XP_011514351.1:p.Asn113Ser
XM_011516050.1:c.338A>G	XP_011514352.1:p.Asn113Ser
XR_927446.1:n.1183A>G
XR_927448.1:n.1077A>G
XR_927453.1:n.881A>G
NM_001350879.1:c.656A>G	NP_001337808.1:p.Asn219Ser
NM_001350880.1:c.509A>G	NP_001337809.1:p.Asn170Ser
NM_001350881.1:c.*36A>G	NP_001337810.1:n.*36A>G
NM_001350882.1:c.641A>G	NP_001337811.1:p.Asn214Ser
NM_001350883.1:c.641A>G	NP_001337812.1:p.Asn214Ser
NM_001350884.1:c.641A>G	NP_001337813.1:p.Asn214Ser
NM_001350885.1:c.338A>G	NP_001337814.1:p.Asn113Ser
NM_001350886.1:c.338A>G	NP_001337815.1:p.Asn113Ser
NM_001350887.1:c.338A>G	NP_001337816.1:p.Asn113Ser
NM_001350889.1:c.338A>G	NP_001337818.1:p.Asn113Ser
NM_001350893.1:c.338A>G	NP_001337822.1:p.Asn113Ser
NM_001350894.1:c.338A>G	NP_001337823.1:p.Asn113Ser
NM_001350895.1:c.305A>G	NP_001337824.1:p.Asn102Ser
NR_146934.1:n.553A>G
NR_146935.1:n.692A>G
NR_146936.1:n.1135A>G
XM_011516032.2:c.734A>G	XP_011514334.1:p.Asn245Ser
XM_011516033.2:c.734A>G	XP_011514335.1:p.Asn245Ser
XM_011516034.2:c.734A>G	XP_011514336.1:p.Asn245Ser
XM_011516035.3:c.*36A>G	XP_011514337.1:n.*36A>G
XM_011516037.2:c.719A>G	XP_011514339.1:p.Asn240Ser
XM_011516039.2:c.656A>G	XP_011514341.1:p.Asn219Ser
XM_011516047.2:c.338A>G	XP_011514349.1:p.Asn113Ser
XM_017011970.1:c.719A>G	XP_016867459.1:p.Asn240Ser
XM_017011971.1:c.719A>G	XP_016867460.1:p.Asn240Ser
XM_017011974.1:c.656A>G	XP_016867463.1:p.Asn219Ser
XM_017011975.1:c.656A>G	XP_016867464.1:p.Asn219Ser
XM_017011980.2:c.416A>G	XP_016867469.1:p.Asn139Ser
XM_017011981.2:c.416A>G	XP_016867470.1:p.Asn139Ser
XM_017011982.1:c.338A>G	XP_016867471.1:p.Asn113Ser
XM_024446715.1:c.494A>G	XP_024302483.1:p.Asn165Ser
XM_024446716.1:c.305A>G	XP_024302484.1:p.Asn102Ser
XM_024446717.1:c.338A>G	XP_024302485.1:p.Asn113Ser
NM_022445.4:c.656A>G MANE Select	NP_071890.2:p.Asn219Ser
NM_001350884.2:c.641A>G	NP_001337813.1:p.Asn214Ser
NR_146936.2:n.1111A>G
NM_001042482.2:c.509A>G	NP_001035947.1:p.Asn170Ser