Canonical Allele Identifier: CA360154889

Gene: POLK

Linked Data

• dbSNP Id: rs1773171567
• gnomAD v4: 5-75597780-G-A
• MyVariant Identifiers: chr5:g.74893605G>A (hg19) ; chr5:g.75597780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597780G>A , CM000667.2:g.75597780G>A	GRCh38
NC_000005.9:g.74893605G>A , CM000667.1:g.74893605G>A	GRCh37
NC_000005.8:g.74929361G>A	NCBI36
NG_051590.1:g.91031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2519G>A MANE Select	ENSP00000241436.4:p.Arg840Lys
ENST00000241436.8:c.2519G>A	ENSP00000241436.4:p.Arg840Lys
ENST00000502567.1:n.364G>A
ENST00000503479.6:c.*1042G>A	ENSP00000421997.2:n.*1042G>A
ENST00000504026.5:c.1390G>A	ENSP00000425075.1:n.1390G>A
ENST00000505069.1:n.99G>A
ENST00000505975.5:c.2633G>A	ENSP00000424859.1:n.2633G>A
ENST00000506928.5:n.2642G>A
ENST00000508526.5:c.1925G>A	ENSP00000426853.1:p.Arg642Lys
ENST00000509126.2:c.2347G>A	ENSP00000423532.1:n.2347G>A
ENST00000510815.6:c.*1042G>A	ENSP00000422094.2:n.*1042G>A
ENST00000511527.5:c.1504G>A	ENSP00000420997.1:n.1504G>A
ENST00000514141.5:c.*1138G>A	ENSP00000423526.1:n.*1138G>A
NM_016218.2:c.2519G>A	NP_057302.1:p.Arg840Lys
XM_005248534.3:c.2561G>A	XP_005248591.1:p.Arg854Lys
XM_006714652.2:c.1274G>A	XP_006714715.1:p.Arg425Lys
XM_011543463.1:c.2561G>A	XP_011541765.1:p.Arg854Lys
XM_011543464.1:c.2561G>A	XP_011541766.1:p.Arg854Lys
XM_011543465.1:c.2561G>A	XP_011541767.1:p.Arg854Lys
XM_011543466.1:c.2561G>A	XP_011541768.1:p.Arg854Lys
XM_011543467.1:c.2291G>A	XP_011541769.1:p.Arg764Lys
XR_241784.1:n.2527G>A
XR_948273.1:n.2711G>A
NM_001345921.1:c.2321G>A	NP_001332850.1:p.Arg774Lys
NM_001345922.1:c.2249G>A	NP_001332851.1:p.Arg750Lys
NM_016218.3:c.2519G>A	NP_057302.1:p.Arg840Lys
NR_144315.1:n.2525G>A
XM_005248534.5:c.2561G>A	XP_005248591.1:p.Arg854Lys
XM_006714652.4:c.1274G>A	XP_006714715.1:p.Arg425Lys
XM_011543463.3:c.2561G>A	XP_011541765.1:p.Arg854Lys
XM_011543464.3:c.2561G>A	XP_011541766.1:p.Arg854Lys
XM_011543467.3:c.2291G>A	XP_011541769.1:p.Arg764Lys
XM_017009559.2:c.2519G>A	XP_016865048.1:p.Arg840Lys
XM_017009560.2:c.2519G>A	XP_016865049.1:p.Arg840Lys
XM_017009561.2:c.2363G>A	XP_016865050.1:p.Arg788Lys
XM_017009563.2:c.2249G>A	XP_016865052.1:p.Arg750Lys
XR_001742105.2:n.3009G>A
XR_001742107.2:n.3093G>A
XR_001742108.2:n.2627G>A
XR_241784.3:n.3051G>A
XR_948273.3:n.2711G>A
NM_001345921.2:c.2321G>A	NP_001332850.1:p.Arg774Lys
NM_001345922.2:c.2249G>A	NP_001332851.1:p.Arg750Lys
NM_001387110.2:c.2510G>A	NP_001374039.1:p.Arg837Lys
NM_001387111.2:c.2561G>A	NP_001374040.1:p.Arg854Lys
NM_001387113.2:c.2519G>A	NP_001374042.1:p.Arg840Lys
NM_016218.5:c.2519G>A	NP_057302.1:p.Arg840Lys
NR_144315.2:n.2384G>A
NR_170559.2:n.2373G>A
NR_170560.2:n.2605G>A
NM_001345921.3:c.2321G>A	NP_001332850.1:p.Arg774Lys
NM_001345922.3:c.2249G>A	NP_001332851.1:p.Arg750Lys
NM_001387110.3:c.2510G>A	NP_001374039.1:p.Arg837Lys
NM_001387111.3:c.2561G>A	NP_001374040.1:p.Arg854Lys
NM_001387113.3:c.2519G>A	NP_001374042.1:p.Arg840Lys
NM_001395893.1:c.2249G>A	NP_001382822.1:p.Arg750Lys
NM_001395894.1:c.2561G>A	NP_001382823.1:p.Arg854Lys
NM_001395897.1:c.2558G>A	NP_001382826.1:p.Arg853Lys
NM_001395899.1:c.2366G>A	NP_001382828.1:p.Arg789Lys
NM_001395900.1:c.2321G>A	NP_001382829.1:p.Arg774Lys
NM_001395901.1:c.2279G>A	NP_001382830.1:p.Arg760Lys
NM_001395902.1:c.2249G>A	NP_001382831.1:p.Arg750Lys
NM_016218.6:c.2519G>A MANE Select	NP_057302.1:p.Arg840Lys
NR_144315.3:n.2384G>A
NR_170559.3:n.2373G>A
NR_170560.3:n.2605G>A