Canonical Allele Identifier: CA360154832

Gene: POLK

Linked Data

• gnomAD v4: 5-75597758-G-A
• MyVariant Identifiers: chr5:g.74893583G>A (hg19) ; chr5:g.75597758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597758G>A , CM000667.2:g.75597758G>A	GRCh38
NC_000005.9:g.74893583G>A , CM000667.1:g.74893583G>A	GRCh37
NC_000005.8:g.74929339G>A	NCBI36
NG_051590.1:g.91009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2497G>A MANE Select	ENSP00000241436.4:p.Gly833Arg
ENST00000241436.8:c.2497G>A	ENSP00000241436.4:p.Gly833Arg
ENST00000502567.1:n.342G>A
ENST00000503479.6:c.*1020G>A	ENSP00000421997.2:n.*1020G>A
ENST00000504026.5:c.1368G>A	ENSP00000425075.1:p.Val456=
ENST00000505069.1:n.77G>A
ENST00000505975.5:c.2611G>A	ENSP00000424859.1:n.2611G>A
ENST00000506928.5:n.2620G>A
ENST00000508526.5:c.1903G>A	ENSP00000426853.1:p.Gly635Arg
ENST00000509126.2:c.2325G>A	ENSP00000423532.1:n.2325G>A
ENST00000510815.6:c.*1020G>A	ENSP00000422094.2:n.*1020G>A
ENST00000511527.5:c.1482G>A	ENSP00000420997.1:n.1482G>A
ENST00000514141.5:c.*1116G>A	ENSP00000423526.1:n.*1116G>A
NM_016218.2:c.2497G>A	NP_057302.1:p.Gly833Arg
XM_005248534.3:c.2539G>A	XP_005248591.1:p.Gly847Arg
XM_006714652.2:c.1252G>A	XP_006714715.1:p.Gly418Arg
XM_011543463.1:c.2539G>A	XP_011541765.1:p.Gly847Arg
XM_011543464.1:c.2539G>A	XP_011541766.1:p.Gly847Arg
XM_011543465.1:c.2539G>A	XP_011541767.1:p.Gly847Arg
XM_011543466.1:c.2539G>A	XP_011541768.1:p.Gly847Arg
XM_011543467.1:c.2269G>A	XP_011541769.1:p.Gly757Arg
XR_241784.1:n.2505G>A
XR_948273.1:n.2689G>A
NM_001345921.1:c.2299G>A	NP_001332850.1:p.Gly767Arg
NM_001345922.1:c.2227G>A	NP_001332851.1:p.Gly743Arg
NM_016218.3:c.2497G>A	NP_057302.1:p.Gly833Arg
NR_144315.1:n.2503G>A
XM_005248534.5:c.2539G>A	XP_005248591.1:p.Gly847Arg
XM_006714652.4:c.1252G>A	XP_006714715.1:p.Gly418Arg
XM_011543463.3:c.2539G>A	XP_011541765.1:p.Gly847Arg
XM_011543464.3:c.2539G>A	XP_011541766.1:p.Gly847Arg
XM_011543467.3:c.2269G>A	XP_011541769.1:p.Gly757Arg
XM_017009559.2:c.2497G>A	XP_016865048.1:p.Gly833Arg
XM_017009560.2:c.2497G>A	XP_016865049.1:p.Gly833Arg
XM_017009561.2:c.2341G>A	XP_016865050.1:p.Gly781Arg
XM_017009563.2:c.2227G>A	XP_016865052.1:p.Gly743Arg
XR_001742105.2:n.2987G>A
XR_001742107.2:n.3071G>A
XR_001742108.2:n.2605G>A
XR_241784.3:n.3029G>A
XR_948273.3:n.2689G>A
NM_001345921.2:c.2299G>A	NP_001332850.1:p.Gly767Arg
NM_001345922.2:c.2227G>A	NP_001332851.1:p.Gly743Arg
NM_001387110.2:c.2488G>A	NP_001374039.1:p.Gly830Arg
NM_001387111.2:c.2539G>A	NP_001374040.1:p.Gly847Arg
NM_001387113.2:c.2497G>A	NP_001374042.1:p.Gly833Arg
NM_016218.5:c.2497G>A	NP_057302.1:p.Gly833Arg
NR_144315.2:n.2362G>A
NR_170559.2:n.2351G>A
NR_170560.2:n.2583G>A
NM_001345921.3:c.2299G>A	NP_001332850.1:p.Gly767Arg
NM_001345922.3:c.2227G>A	NP_001332851.1:p.Gly743Arg
NM_001387110.3:c.2488G>A	NP_001374039.1:p.Gly830Arg
NM_001387111.3:c.2539G>A	NP_001374040.1:p.Gly847Arg
NM_001387113.3:c.2497G>A	NP_001374042.1:p.Gly833Arg
NM_001395893.1:c.2227G>A	NP_001382822.1:p.Gly743Arg
NM_001395894.1:c.2539G>A	NP_001382823.1:p.Gly847Arg
NM_001395897.1:c.2536G>A	NP_001382826.1:p.Gly846Arg
NM_001395899.1:c.2344G>A	NP_001382828.1:p.Gly782Arg
NM_001395900.1:c.2299G>A	NP_001382829.1:p.Gly767Arg
NM_001395901.1:c.2257G>A	NP_001382830.1:p.Gly753Arg
NM_001395902.1:c.2227G>A	NP_001382831.1:p.Gly743Arg
NM_016218.6:c.2497G>A MANE Select	NP_057302.1:p.Gly833Arg
NR_144315.3:n.2362G>A
NR_170559.3:n.2351G>A
NR_170560.3:n.2583G>A