Canonical Allele Identifier: CA168286038

Gene: TPK1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.144648819G>T , CM000669.2:g.144648819G>T	GRCh38
NC_000007.13:g.144345912G>T , CM000669.1:g.144345912G>T	GRCh37
NC_000007.12:g.143976845G>T	NCBI36
NG_032112.1:g.192235C>A
NG_032112.2:g.192235C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022445.4:c.246C>A MANE Select	NP_071890.2:p.Tyr82Ter
ENST00000360057.7:c.246C>A MANE Select	ENSP00000353165.3:p.Tyr82Ter
NM_001042482.1:c.246C>A	NP_001035947.1:p.Tyr82Ter
NM_001042482.2:c.246C>A	NP_001035947.1:p.Tyr82Ter
NM_001350879.1:c.246C>A	NP_001337808.1:p.Tyr82Ter
NM_001350880.1:c.246C>A	NP_001337809.1:p.Tyr82Ter
NM_001350881.1:c.246C>A	NP_001337810.1:p.Tyr82Ter
NM_001350882.1:c.231C>A	NP_001337811.1:p.Tyr77Ter
NM_001350883.1:c.231C>A	NP_001337812.1:p.Tyr77Ter
NM_001350884.1:c.231C>A	NP_001337813.1:p.Tyr77Ter
NM_001350884.2:c.231C>A	NP_001337813.1:p.Tyr77Ter
NM_001350885.1:c.-73C>A	NP_001337814.1:n.-73C>A
NM_001350886.1:c.-151C>A	NP_001337815.1:n.-151C>A
NM_001350887.1:c.-60-25558C>A	NP_001337816.1:n.-60-25558C>A
NM_001350889.1:c.-60-25558C>A	NP_001337818.1:n.-60-25558C>A
NM_001350893.1:c.-73C>A	NP_001337822.1:n.-73C>A
NM_001350894.1:c.-60-25558C>A	NP_001337823.1:n.-60-25558C>A
NM_001350895.1:c.-228C>A	NP_001337824.1:n.-228C>A
NM_022445.3:c.246C>A	NP_071890.2:p.Tyr82Ter
NR_146934.1:n.290C>A
NR_146935.1:n.429C>A
NR_146936.1:n.497C>A
NR_146936.2:n.473C>A
ENST00000378098.8:c.246C>A	ENSP00000367338.4:p.Tyr82Ter
ENST00000378099.7:c.246C>A	ENSP00000367339.3:p.Tyr82Ter
ENST00000481645.5:n.336C>A
ENST00000482940.5:c.*49C>A	ENSP00000449909.1:n.*49C>A
ENST00000489798.5:c.110C>A	ENSP00000450028.1:p.Thr37Asn
ENST00000538212.6:c.231C>A	ENSP00000438813.2:p.Tyr77Ter
ENST00000547966.5:n.144C>A
ENST00000551062.5:n.160C>A
ENST00000552881.1:c.246C>A	ENSP00000448655.1:p.Tyr82Ter
ENST00000639328.1:c.-73C>A	ENSP00000491869.1:n.-73C>A
XM_005249970.1:c.246C>A	XP_005250027.1:p.Tyr82Ter
XM_006715925.2:c.-60-25558C>A	XP_006715988.1:n.-60-25558C>A
XM_011516031.1:c.246C>A	XP_011514333.1:p.Tyr82Ter
XM_011516032.1:c.246C>A	XP_011514334.1:p.Tyr82Ter
XM_011516032.2:c.246C>A	XP_011514334.1:p.Tyr82Ter
XM_011516033.1:c.246C>A	XP_011514335.1:p.Tyr82Ter
XM_011516033.2:c.246C>A	XP_011514335.1:p.Tyr82Ter
XM_011516034.1:c.246C>A	XP_011514336.1:p.Tyr82Ter
XM_011516034.2:c.246C>A	XP_011514336.1:p.Tyr82Ter
XM_011516035.1:c.246C>A	XP_011514337.1:p.Tyr82Ter
XM_011516035.3:c.246C>A	XP_011514337.1:p.Tyr82Ter
XM_011516036.1:c.231C>A	XP_011514338.1:p.Tyr77Ter
XM_011516037.1:c.231C>A	XP_011514339.1:p.Tyr77Ter
XM_011516037.2:c.231C>A	XP_011514339.1:p.Tyr77Ter
XM_011516038.1:c.231C>A	XP_011514340.1:p.Tyr77Ter
XM_011516039.1:c.168C>A	XP_011514341.1:p.Tyr56Ter
XM_011516039.2:c.168C>A	XP_011514341.1:p.Tyr56Ter
XM_011516040.1:c.246C>A	XP_011514342.1:p.Tyr82Ter
XM_011516040.2:c.246C>A	XP_011514342.1:p.Tyr82Ter
XM_011516041.1:c.231C>A	XP_011514343.1:p.Tyr77Ter
XM_011516042.1:c.246C>A	XP_011514344.1:p.Tyr82Ter
XM_011516043.1:c.246C>A	XP_011514345.1:p.Tyr82Ter
XM_011516044.1:c.231C>A	XP_011514346.1:p.Tyr77Ter
XM_011516045.1:c.-208C>A	XP_011514347.1:n.-208C>A
XM_011516046.1:c.246C>A	XP_011514348.1:p.Tyr82Ter
XM_011516047.1:c.-73C>A	XP_011514349.1:n.-73C>A
XM_011516047.2:c.-73C>A	XP_011514349.1:n.-73C>A
XM_011516048.1:c.-73C>A	XP_011514350.1:n.-73C>A
XM_011516049.1:c.-151C>A	XP_011514351.1:n.-151C>A
XM_011516050.1:c.-151C>A	XP_011514352.1:n.-151C>A
XM_017011969.1:c.246C>A	XP_016867458.1:p.Tyr82Ter
XM_017011970.1:c.231C>A	XP_016867459.1:p.Tyr77Ter
XM_017011971.1:c.231C>A	XP_016867460.1:p.Tyr77Ter
XM_017011972.1:c.246C>A	XP_016867461.1:p.Tyr82Ter
XM_017011974.1:c.168C>A	XP_016867463.1:p.Tyr56Ter
XM_017011975.1:c.168C>A	XP_016867464.1:p.Tyr56Ter
XM_017011982.1:c.-73C>A	XP_016867471.1:n.-73C>A
XM_024446715.1:c.231C>A	XP_024302483.1:p.Tyr77Ter
XM_024446716.1:c.-228C>A	XP_024302484.1:n.-228C>A
XM_024446717.1:c.-151C>A	XP_024302485.1:n.-151C>A
XR_001744630.1:n.350C>A
XR_927446.1:n.350C>A
XR_927448.1:n.350C>A
XR_927450.1:n.350C>A
XR_927451.1:n.350C>A
XR_927453.1:n.349C>A