Canonical Allele Identifier: CA360154897

Gene: POLK

Linked Data

• dbSNP Id: rs1773171774
• gnomAD v4: 5-75597783-C-T
• MyVariant Identifiers: chr5:g.74893608C>T (hg19) ; chr5:g.75597783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597783C>T , CM000667.2:g.75597783C>T	GRCh38
NC_000005.9:g.74893608C>T , CM000667.1:g.74893608C>T	GRCh37
NC_000005.8:g.74929364C>T	NCBI36
NG_051590.1:g.91034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2522C>T MANE Select	ENSP00000241436.4:p.Thr841Ile
ENST00000241436.8:c.2522C>T	ENSP00000241436.4:p.Thr841Ile
ENST00000502567.1:n.367C>T
ENST00000503479.6:c.*1045C>T	ENSP00000421997.2:n.*1045C>T
ENST00000504026.5:c.1393C>T	ENSP00000425075.1:n.1393C>T
ENST00000505069.1:n.102C>T
ENST00000505975.5:c.2636C>T	ENSP00000424859.1:n.2636C>T
ENST00000506928.5:n.2645C>T
ENST00000508526.5:c.1928C>T	ENSP00000426853.1:p.Thr643Ile
ENST00000509126.2:c.2350C>T	ENSP00000423532.1:n.2350C>T
ENST00000510815.6:c.*1045C>T	ENSP00000422094.2:n.*1045C>T
ENST00000511527.5:c.1507C>T	ENSP00000420997.1:n.1507C>T
ENST00000514141.5:c.*1141C>T	ENSP00000423526.1:n.*1141C>T
NM_016218.2:c.2522C>T	NP_057302.1:p.Thr841Ile
XM_005248534.3:c.2564C>T	XP_005248591.1:p.Thr855Ile
XM_006714652.2:c.1277C>T	XP_006714715.1:p.Thr426Ile
XM_011543463.1:c.2564C>T	XP_011541765.1:p.Thr855Ile
XM_011543464.1:c.2564C>T	XP_011541766.1:p.Thr855Ile
XM_011543465.1:c.2564C>T	XP_011541767.1:p.Thr855Ile
XM_011543466.1:c.2564C>T	XP_011541768.1:p.Thr855Ile
XM_011543467.1:c.2294C>T	XP_011541769.1:p.Thr765Ile
XR_241784.1:n.2530C>T
XR_948273.1:n.2714C>T
NM_001345921.1:c.2324C>T	NP_001332850.1:p.Thr775Ile
NM_001345922.1:c.2252C>T	NP_001332851.1:p.Thr751Ile
NM_016218.3:c.2522C>T	NP_057302.1:p.Thr841Ile
NR_144315.1:n.2528C>T
XM_005248534.5:c.2564C>T	XP_005248591.1:p.Thr855Ile
XM_006714652.4:c.1277C>T	XP_006714715.1:p.Thr426Ile
XM_011543463.3:c.2564C>T	XP_011541765.1:p.Thr855Ile
XM_011543464.3:c.2564C>T	XP_011541766.1:p.Thr855Ile
XM_011543467.3:c.2294C>T	XP_011541769.1:p.Thr765Ile
XM_017009559.2:c.2522C>T	XP_016865048.1:p.Thr841Ile
XM_017009560.2:c.2522C>T	XP_016865049.1:p.Thr841Ile
XM_017009561.2:c.2366C>T	XP_016865050.1:p.Thr789Ile
XM_017009563.2:c.2252C>T	XP_016865052.1:p.Thr751Ile
XR_001742105.2:n.3012C>T
XR_001742107.2:n.3096C>T
XR_001742108.2:n.2630C>T
XR_241784.3:n.3054C>T
XR_948273.3:n.2714C>T
NM_001345921.2:c.2324C>T	NP_001332850.1:p.Thr775Ile
NM_001345922.2:c.2252C>T	NP_001332851.1:p.Thr751Ile
NM_001387110.2:c.2513C>T	NP_001374039.1:p.Thr838Ile
NM_001387111.2:c.2564C>T	NP_001374040.1:p.Thr855Ile
NM_001387113.2:c.2522C>T	NP_001374042.1:p.Thr841Ile
NM_016218.5:c.2522C>T	NP_057302.1:p.Thr841Ile
NR_144315.2:n.2387C>T
NR_170559.2:n.2376C>T
NR_170560.2:n.2608C>T
NM_001345921.3:c.2324C>T	NP_001332850.1:p.Thr775Ile
NM_001345922.3:c.2252C>T	NP_001332851.1:p.Thr751Ile
NM_001387110.3:c.2513C>T	NP_001374039.1:p.Thr838Ile
NM_001387111.3:c.2564C>T	NP_001374040.1:p.Thr855Ile
NM_001387113.3:c.2522C>T	NP_001374042.1:p.Thr841Ile
NM_001395893.1:c.2252C>T	NP_001382822.1:p.Thr751Ile
NM_001395894.1:c.2564C>T	NP_001382823.1:p.Thr855Ile
NM_001395897.1:c.2561C>T	NP_001382826.1:p.Thr854Ile
NM_001395899.1:c.2369C>T	NP_001382828.1:p.Thr790Ile
NM_001395900.1:c.2324C>T	NP_001382829.1:p.Thr775Ile
NM_001395901.1:c.2282C>T	NP_001382830.1:p.Thr761Ile
NM_001395902.1:c.2252C>T	NP_001382831.1:p.Thr751Ile
NM_016218.6:c.2522C>T MANE Select	NP_057302.1:p.Thr841Ile
NR_144315.3:n.2387C>T
NR_170559.3:n.2376C>T
NR_170560.3:n.2608C>T