Canonical Allele Identifier: CA444695549

Gene: POLK

Linked Data

• gnomAD v4: 5-75597788-A-C
• MyVariant Identifiers: chr5:g.74893613A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597788A>C , CM000667.2:g.75597788A>C	GRCh38
NC_000005.9:g.74893613A>C , CM000667.1:g.74893613A>C	GRCh37
NC_000005.8:g.74929369A>C	NCBI36
NG_051590.1:g.91039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2527A>C MANE Select	ENSP00000241436.4:p.Arg843=
ENST00000241436.8:c.2527A>C	ENSP00000241436.4:p.Arg843=
ENST00000502567.1:n.372A>C
ENST00000503479.6:c.*1050A>C	ENSP00000421997.2:n.*1050A>C
ENST00000504026.5:c.1398A>C	ENSP00000425075.1:n.1398A>C
ENST00000505069.1:n.107A>C
ENST00000505975.5:c.2641A>C	ENSP00000424859.1:n.2641A>C
ENST00000506928.5:n.2650A>C
ENST00000508526.5:c.1933A>C	ENSP00000426853.1:p.Arg645=
ENST00000509126.2:c.2355A>C	ENSP00000423532.1:n.2355A>C
ENST00000510815.6:c.*1050A>C	ENSP00000422094.2:n.*1050A>C
ENST00000511527.5:c.1512A>C	ENSP00000420997.1:n.1512A>C
ENST00000514141.5:c.*1146A>C	ENSP00000423526.1:n.*1146A>C
NM_016218.2:c.2527A>C	NP_057302.1:p.Arg843=
XM_005248534.3:c.2569A>C	XP_005248591.1:p.Arg857=
XM_006714652.2:c.1282A>C	XP_006714715.1:p.Arg428=
XM_011543463.1:c.2569A>C	XP_011541765.1:p.Arg857=
XM_011543464.1:c.2569A>C	XP_011541766.1:p.Arg857=
XM_011543465.1:c.2569A>C	XP_011541767.1:p.Arg857=
XM_011543466.1:c.2569A>C	XP_011541768.1:p.Arg857=
XM_011543467.1:c.2299A>C	XP_011541769.1:p.Arg767=
XR_241784.1:n.2535A>C
XR_948273.1:n.2719A>C
NM_001345921.1:c.2329A>C	NP_001332850.1:p.Arg777=
NM_001345922.1:c.2257A>C	NP_001332851.1:p.Arg753=
NM_016218.3:c.2527A>C	NP_057302.1:p.Arg843=
NR_144315.1:n.2533A>C
XM_005248534.5:c.2569A>C	XP_005248591.1:p.Arg857=
XM_006714652.4:c.1282A>C	XP_006714715.1:p.Arg428=
XM_011543463.3:c.2569A>C	XP_011541765.1:p.Arg857=
XM_011543464.3:c.2569A>C	XP_011541766.1:p.Arg857=
XM_011543467.3:c.2299A>C	XP_011541769.1:p.Arg767=
XM_017009559.2:c.2527A>C	XP_016865048.1:p.Arg843=
XM_017009560.2:c.2527A>C	XP_016865049.1:p.Arg843=
XM_017009561.2:c.2371A>C	XP_016865050.1:p.Arg791=
XM_017009563.2:c.2257A>C	XP_016865052.1:p.Arg753=
XR_001742105.2:n.3017A>C
XR_001742107.2:n.3101A>C
XR_001742108.2:n.2635A>C
XR_241784.3:n.3059A>C
XR_948273.3:n.2719A>C
NM_001345921.2:c.2329A>C	NP_001332850.1:p.Arg777=
NM_001345922.2:c.2257A>C	NP_001332851.1:p.Arg753=
NM_001387110.2:c.2518A>C	NP_001374039.1:p.Arg840=
NM_001387111.2:c.2569A>C	NP_001374040.1:p.Arg857=
NM_001387113.2:c.2527A>C	NP_001374042.1:p.Arg843=
NM_016218.5:c.2527A>C	NP_057302.1:p.Arg843=
NR_144315.2:n.2392A>C
NR_170559.2:n.2381A>C
NR_170560.2:n.2613A>C
NM_001345921.3:c.2329A>C	NP_001332850.1:p.Arg777=
NM_001345922.3:c.2257A>C	NP_001332851.1:p.Arg753=
NM_001387110.3:c.2518A>C	NP_001374039.1:p.Arg840=
NM_001387111.3:c.2569A>C	NP_001374040.1:p.Arg857=
NM_001387113.3:c.2527A>C	NP_001374042.1:p.Arg843=
NM_001395893.1:c.2257A>C	NP_001382822.1:p.Arg753=
NM_001395894.1:c.2569A>C	NP_001382823.1:p.Arg857=
NM_001395897.1:c.2566A>C	NP_001382826.1:p.Arg856=
NM_001395899.1:c.2374A>C	NP_001382828.1:p.Arg792=
NM_001395900.1:c.2329A>C	NP_001382829.1:p.Arg777=
NM_001395901.1:c.2287A>C	NP_001382830.1:p.Arg763=
NM_001395902.1:c.2257A>C	NP_001382831.1:p.Arg753=
NM_016218.6:c.2527A>C MANE Select	NP_057302.1:p.Arg843=
NR_144315.3:n.2392A>C
NR_170559.3:n.2381A>C
NR_170560.3:n.2613A>C