Canonical Allele Identifier: CA360154825

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893580A>T (hg19) ; chr5:g.75597755A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597755A>T , CM000667.2:g.75597755A>T	GRCh38
NC_000005.9:g.74893580A>T , CM000667.1:g.74893580A>T	GRCh37
NC_000005.8:g.74929336A>T	NCBI36
NG_051590.1:g.91006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2494A>T MANE Select	ENSP00000241436.4:p.Ser832Cys
ENST00000241436.8:c.2494A>T	ENSP00000241436.4:p.Ser832Cys
ENST00000502567.1:n.339A>T
ENST00000503479.6:c.*1017A>T	ENSP00000421997.2:n.*1017A>T
ENST00000504026.5:c.1365A>T	ENSP00000425075.1:p.Gln455His
ENST00000505069.1:n.74A>T
ENST00000505975.5:c.2608A>T	ENSP00000424859.1:n.2608A>T
ENST00000506928.5:n.2617A>T
ENST00000508526.5:c.1900A>T	ENSP00000426853.1:p.Ser634Cys
ENST00000509126.2:c.2322A>T	ENSP00000423532.1:n.2322A>T
ENST00000510815.6:c.*1017A>T	ENSP00000422094.2:n.*1017A>T
ENST00000511527.5:c.1479A>T	ENSP00000420997.1:n.1479A>T
ENST00000514141.5:c.*1113A>T	ENSP00000423526.1:n.*1113A>T
NM_016218.2:c.2494A>T	NP_057302.1:p.Ser832Cys
XM_005248534.3:c.2536A>T	XP_005248591.1:p.Ser846Cys
XM_006714652.2:c.1249A>T	XP_006714715.1:p.Ser417Cys
XM_011543463.1:c.2536A>T	XP_011541765.1:p.Ser846Cys
XM_011543464.1:c.2536A>T	XP_011541766.1:p.Ser846Cys
XM_011543465.1:c.2536A>T	XP_011541767.1:p.Ser846Cys
XM_011543466.1:c.2536A>T	XP_011541768.1:p.Ser846Cys
XM_011543467.1:c.2266A>T	XP_011541769.1:p.Ser756Cys
XR_241784.1:n.2502A>T
XR_948273.1:n.2686A>T
NM_001345921.1:c.2296A>T	NP_001332850.1:p.Ser766Cys
NM_001345922.1:c.2224A>T	NP_001332851.1:p.Ser742Cys
NM_016218.3:c.2494A>T	NP_057302.1:p.Ser832Cys
NR_144315.1:n.2500A>T
XM_005248534.5:c.2536A>T	XP_005248591.1:p.Ser846Cys
XM_006714652.4:c.1249A>T	XP_006714715.1:p.Ser417Cys
XM_011543463.3:c.2536A>T	XP_011541765.1:p.Ser846Cys
XM_011543464.3:c.2536A>T	XP_011541766.1:p.Ser846Cys
XM_011543467.3:c.2266A>T	XP_011541769.1:p.Ser756Cys
XM_017009559.2:c.2494A>T	XP_016865048.1:p.Ser832Cys
XM_017009560.2:c.2494A>T	XP_016865049.1:p.Ser832Cys
XM_017009561.2:c.2338A>T	XP_016865050.1:p.Ser780Cys
XM_017009563.2:c.2224A>T	XP_016865052.1:p.Ser742Cys
XR_001742105.2:n.2984A>T
XR_001742107.2:n.3068A>T
XR_001742108.2:n.2602A>T
XR_241784.3:n.3026A>T
XR_948273.3:n.2686A>T
NM_001345921.2:c.2296A>T	NP_001332850.1:p.Ser766Cys
NM_001345922.2:c.2224A>T	NP_001332851.1:p.Ser742Cys
NM_001387110.2:c.2485A>T	NP_001374039.1:p.Ser829Cys
NM_001387111.2:c.2536A>T	NP_001374040.1:p.Ser846Cys
NM_001387113.2:c.2494A>T	NP_001374042.1:p.Ser832Cys
NM_016218.5:c.2494A>T	NP_057302.1:p.Ser832Cys
NR_144315.2:n.2359A>T
NR_170559.2:n.2348A>T
NR_170560.2:n.2580A>T
NM_001345921.3:c.2296A>T	NP_001332850.1:p.Ser766Cys
NM_001345922.3:c.2224A>T	NP_001332851.1:p.Ser742Cys
NM_001387110.3:c.2485A>T	NP_001374039.1:p.Ser829Cys
NM_001387111.3:c.2536A>T	NP_001374040.1:p.Ser846Cys
NM_001387113.3:c.2494A>T	NP_001374042.1:p.Ser832Cys
NM_001395893.1:c.2224A>T	NP_001382822.1:p.Ser742Cys
NM_001395894.1:c.2536A>T	NP_001382823.1:p.Ser846Cys
NM_001395897.1:c.2533A>T	NP_001382826.1:p.Ser845Cys
NM_001395899.1:c.2341A>T	NP_001382828.1:p.Ser781Cys
NM_001395900.1:c.2296A>T	NP_001382829.1:p.Ser766Cys
NM_001395901.1:c.2254A>T	NP_001382830.1:p.Ser752Cys
NM_001395902.1:c.2224A>T	NP_001382831.1:p.Ser742Cys
NM_016218.6:c.2494A>T MANE Select	NP_057302.1:p.Ser832Cys
NR_144315.3:n.2359A>T
NR_170559.3:n.2348A>T
NR_170560.3:n.2580A>T