Canonical Allele Identifier: CA4545131

Gene: TPK1

Linked Data

• ClinVar Variation Id: 860452
• ClinVar RCV Id: RCV001066752
• dbSNP Id: rs758949475
• ExAC: 7:144288538 G / A
• gnomAD v2: 7-144288538-G-A
• gnomAD v3: 7-144591445-G-A
• gnomAD v4: 7-144591445-G-A
• MyVariant Identifiers: chr7:g.144288538G>A (hg19) ; chr7:g.144591445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.144591445G>A , CM000669.2:g.144591445G>A	GRCh38
NC_000007.13:g.144288538G>A , CM000669.1:g.144288538G>A	GRCh37
NC_000007.12:g.143919471G>A	NCBI36
NG_032112.1:g.249609C>T
NG_032112.2:g.249609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639328.1:c.161C>T	ENSP00000491869.1:p.Ser54Leu
ENST00000360057.7:c.479C>T MANE Select	ENSP00000353165.3:p.Ser160Leu
ENST00000378098.8:c.*235C>T	ENSP00000367338.4:n.*235C>T
ENST00000378099.7:c.354+31721C>T	ENSP00000367339.3:n.354+31721C>T
ENST00000482940.5:c.*404C>T	ENSP00000449909.1:n.*404C>T
ENST00000538212.6:c.339+31721C>T	ENSP00000438813.2:n.339+31721C>T
ENST00000547966.5:n.377C>T
ENST00000548831.1:n.250C>T
ENST00000551062.5:n.268+31721C>T
ENST00000552881.1:c.479C>T	ENSP00000448655.1:p.Ser160Leu
NM_001042482.1:c.354+31721C>T	NP_001035947.1:n.354+31721C>T
NM_022445.3:c.479C>T	NP_071890.2:p.Ser160Leu
XM_005249970.1:c.479C>T	XP_005250027.1:p.Ser160Leu
XM_006715925.2:c.161C>T	XP_006715988.1:p.Ser54Leu
XM_011516031.1:c.557C>T	XP_011514333.1:p.Ser186Leu
XM_011516032.1:c.557C>T	XP_011514334.1:p.Ser186Leu
XM_011516033.1:c.557C>T	XP_011514335.1:p.Ser186Leu
XM_011516034.1:c.557C>T	XP_011514336.1:p.Ser186Leu
XM_011516035.1:c.557C>T	XP_011514337.1:p.Ser186Leu
XM_011516036.1:c.542C>T	XP_011514338.1:p.Ser181Leu
XM_011516037.1:c.542C>T	XP_011514339.1:p.Ser181Leu
XM_011516038.1:c.542C>T	XP_011514340.1:p.Ser181Leu
XM_011516039.1:c.479C>T	XP_011514341.1:p.Ser160Leu
XM_011516040.1:c.557C>T	XP_011514342.1:p.Ser186Leu
XM_011516041.1:c.464C>T	XP_011514343.1:p.Ser155Leu
XM_011516042.1:c.557C>T	XP_011514344.1:p.Ser186Leu
XM_011516043.1:c.432+31721C>T	XP_011514345.1:n.432+31721C>T
XM_011516044.1:c.339+31721C>T	XP_011514346.1:n.339+31721C>T
XM_011516045.1:c.239C>T	XP_011514347.1:p.Ser80Leu
XM_011516047.1:c.161C>T	XP_011514349.1:p.Ser54Leu
XM_011516048.1:c.161C>T	XP_011514350.1:p.Ser54Leu
XM_011516049.1:c.161C>T	XP_011514351.1:p.Ser54Leu
XM_011516050.1:c.161C>T	XP_011514352.1:p.Ser54Leu
XR_927446.1:n.661C>T
XR_927448.1:n.661C>T
XR_927450.1:n.661C>T
XR_927451.1:n.661C>T
XR_927453.1:n.704C>T
NM_001350879.1:c.479C>T	NP_001337808.1:p.Ser160Leu
NM_001350880.1:c.354+31721C>T	NP_001337809.1:n.354+31721C>T
NM_001350881.1:c.479C>T	NP_001337810.1:p.Ser160Leu
NM_001350882.1:c.464C>T	NP_001337811.1:p.Ser155Leu
NM_001350883.1:c.464C>T	NP_001337812.1:p.Ser155Leu
NM_001350884.1:c.464C>T	NP_001337813.1:p.Ser155Leu
NM_001350885.1:c.161C>T	NP_001337814.1:p.Ser54Leu
NM_001350886.1:c.161C>T	NP_001337815.1:p.Ser54Leu
NM_001350887.1:c.161C>T	NP_001337816.1:p.Ser54Leu
NM_001350889.1:c.161C>T	NP_001337818.1:p.Ser54Leu
NM_001350893.1:c.161C>T	NP_001337822.1:p.Ser54Leu
NM_001350894.1:c.161C>T	NP_001337823.1:p.Ser54Leu
NM_001350895.1:c.128C>T	NP_001337824.1:p.Ser43Leu
NR_146934.1:n.398+31721C>T
NR_146935.1:n.537+31721C>T
NR_146936.1:n.852C>T
XM_011516032.2:c.557C>T	XP_011514334.1:p.Ser186Leu
XM_011516033.2:c.557C>T	XP_011514335.1:p.Ser186Leu
XM_011516034.2:c.557C>T	XP_011514336.1:p.Ser186Leu
XM_011516035.3:c.557C>T	XP_011514337.1:p.Ser186Leu
XM_011516037.2:c.542C>T	XP_011514339.1:p.Ser181Leu
XM_011516039.2:c.479C>T	XP_011514341.1:p.Ser160Leu
XM_011516040.2:c.557C>T	XP_011514342.1:p.Ser186Leu
XM_011516047.2:c.161C>T	XP_011514349.1:p.Ser54Leu
XM_017011969.1:c.557C>T	XP_016867458.1:p.Ser186Leu
XM_017011970.1:c.542C>T	XP_016867459.1:p.Ser181Leu
XM_017011971.1:c.542C>T	XP_016867460.1:p.Ser181Leu
XM_017011972.1:c.557C>T	XP_016867461.1:p.Ser186Leu
XM_017011974.1:c.479C>T	XP_016867463.1:p.Ser160Leu
XM_017011975.1:c.479C>T	XP_016867464.1:p.Ser160Leu
XM_017011980.2:c.239C>T	XP_016867469.1:p.Ser80Leu
XM_017011981.2:c.239C>T	XP_016867470.1:p.Ser80Leu
XM_017011982.1:c.161C>T	XP_016867471.1:p.Ser54Leu
XM_024446715.1:c.339+31721C>T	XP_024302483.1:n.339+31721C>T
XM_024446716.1:c.128C>T	XP_024302484.1:p.Ser43Leu
XM_024446717.1:c.161C>T	XP_024302485.1:p.Ser54Leu
XR_001744630.1:n.661C>T
NM_022445.4:c.479C>T MANE Select	NP_071890.2:p.Ser160Leu
NM_001350884.2:c.464C>T	NP_001337813.1:p.Ser155Leu
NR_146936.2:n.828C>T
NM_001042482.2:c.354+31721C>T	NP_001035947.1:n.354+31721C>T