Canonical Allele Identifier: CA360154870

Gene: POLK

Linked Data

• gnomAD v4: 5-75597771-C-G
• MyVariant Identifiers: chr5:g.74893596C>G (hg19) ; chr5:g.75597771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597771C>G , CM000667.2:g.75597771C>G	GRCh38
NC_000005.9:g.74893596C>G , CM000667.1:g.74893596C>G	GRCh37
NC_000005.8:g.74929352C>G	NCBI36
NG_051590.1:g.91022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2510C>G MANE Select	ENSP00000241436.4:p.Ala837Gly
ENST00000241436.8:c.2510C>G	ENSP00000241436.4:p.Ala837Gly
ENST00000502567.1:n.355C>G
ENST00000503479.6:c.*1033C>G	ENSP00000421997.2:n.*1033C>G
ENST00000504026.5:c.1381C>G	ENSP00000425075.1:p.Leu461Val
ENST00000505069.1:n.90C>G
ENST00000505975.5:c.2624C>G	ENSP00000424859.1:n.2624C>G
ENST00000506928.5:n.2633C>G
ENST00000508526.5:c.1916C>G	ENSP00000426853.1:p.Ala639Gly
ENST00000509126.2:c.2338C>G	ENSP00000423532.1:n.2338C>G
ENST00000510815.6:c.*1033C>G	ENSP00000422094.2:n.*1033C>G
ENST00000511527.5:c.1495C>G	ENSP00000420997.1:n.1495C>G
ENST00000514141.5:c.*1129C>G	ENSP00000423526.1:n.*1129C>G
NM_016218.2:c.2510C>G	NP_057302.1:p.Ala837Gly
XM_005248534.3:c.2552C>G	XP_005248591.1:p.Ala851Gly
XM_006714652.2:c.1265C>G	XP_006714715.1:p.Ala422Gly
XM_011543463.1:c.2552C>G	XP_011541765.1:p.Ala851Gly
XM_011543464.1:c.2552C>G	XP_011541766.1:p.Ala851Gly
XM_011543465.1:c.2552C>G	XP_011541767.1:p.Ala851Gly
XM_011543466.1:c.2552C>G	XP_011541768.1:p.Ala851Gly
XM_011543467.1:c.2282C>G	XP_011541769.1:p.Ala761Gly
XR_241784.1:n.2518C>G
XR_948273.1:n.2702C>G
NM_001345921.1:c.2312C>G	NP_001332850.1:p.Ala771Gly
NM_001345922.1:c.2240C>G	NP_001332851.1:p.Ala747Gly
NM_016218.3:c.2510C>G	NP_057302.1:p.Ala837Gly
NR_144315.1:n.2516C>G
XM_005248534.5:c.2552C>G	XP_005248591.1:p.Ala851Gly
XM_006714652.4:c.1265C>G	XP_006714715.1:p.Ala422Gly
XM_011543463.3:c.2552C>G	XP_011541765.1:p.Ala851Gly
XM_011543464.3:c.2552C>G	XP_011541766.1:p.Ala851Gly
XM_011543467.3:c.2282C>G	XP_011541769.1:p.Ala761Gly
XM_017009559.2:c.2510C>G	XP_016865048.1:p.Ala837Gly
XM_017009560.2:c.2510C>G	XP_016865049.1:p.Ala837Gly
XM_017009561.2:c.2354C>G	XP_016865050.1:p.Ala785Gly
XM_017009563.2:c.2240C>G	XP_016865052.1:p.Ala747Gly
XR_001742105.2:n.3000C>G
XR_001742107.2:n.3084C>G
XR_001742108.2:n.2618C>G
XR_241784.3:n.3042C>G
XR_948273.3:n.2702C>G
NM_001345921.2:c.2312C>G	NP_001332850.1:p.Ala771Gly
NM_001345922.2:c.2240C>G	NP_001332851.1:p.Ala747Gly
NM_001387110.2:c.2501C>G	NP_001374039.1:p.Ala834Gly
NM_001387111.2:c.2552C>G	NP_001374040.1:p.Ala851Gly
NM_001387113.2:c.2510C>G	NP_001374042.1:p.Ala837Gly
NM_016218.5:c.2510C>G	NP_057302.1:p.Ala837Gly
NR_144315.2:n.2375C>G
NR_170559.2:n.2364C>G
NR_170560.2:n.2596C>G
NM_001345921.3:c.2312C>G	NP_001332850.1:p.Ala771Gly
NM_001345922.3:c.2240C>G	NP_001332851.1:p.Ala747Gly
NM_001387110.3:c.2501C>G	NP_001374039.1:p.Ala834Gly
NM_001387111.3:c.2552C>G	NP_001374040.1:p.Ala851Gly
NM_001387113.3:c.2510C>G	NP_001374042.1:p.Ala837Gly
NM_001395893.1:c.2240C>G	NP_001382822.1:p.Ala747Gly
NM_001395894.1:c.2552C>G	NP_001382823.1:p.Ala851Gly
NM_001395897.1:c.2549C>G	NP_001382826.1:p.Ala850Gly
NM_001395899.1:c.2357C>G	NP_001382828.1:p.Ala786Gly
NM_001395900.1:c.2312C>G	NP_001382829.1:p.Ala771Gly
NM_001395901.1:c.2270C>G	NP_001382830.1:p.Ala757Gly
NM_001395902.1:c.2240C>G	NP_001382831.1:p.Ala747Gly
NM_016218.6:c.2510C>G MANE Select	NP_057302.1:p.Ala837Gly
NR_144315.3:n.2375C>G
NR_170559.3:n.2364C>G
NR_170560.3:n.2596C>G