Canonical Allele Identifier: CA360148738

Gene: POLK

Linked Data

• gnomAD v4: 5-75587057-A-G
• MyVariant Identifiers: chr5:g.74882882A>G (hg19) ; chr5:g.75587057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75587057A>G , CM000667.2:g.75587057A>G	GRCh38
NC_000005.9:g.74882882A>G , CM000667.1:g.74882882A>G	GRCh37
NC_000005.8:g.74918638A>G	NCBI36
NG_051590.1:g.80308A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.1258A>G MANE Select	ENSP00000241436.4:p.Arg420Gly
ENST00000241436.8:c.1258A>G	ENSP00000241436.4:p.Arg420Gly
ENST00000503479.6:c.1060A>G	ENSP00000421997.2:p.Arg354Gly
ENST00000504026.5:c.1258A>G	ENSP00000425075.1:p.Arg420Gly
ENST00000505975.5:c.1372A>G	ENSP00000424859.1:n.1372A>G
ENST00000506928.5:n.1381A>G
ENST00000508526.5:c.934+5609A>G	ENSP00000426853.1:n.934+5609A>G
ENST00000509126.2:c.1258A>G	ENSP00000423532.1:p.Arg420Gly
ENST00000510815.6:c.988A>G	ENSP00000422094.2:p.Arg330Gly
ENST00000511527.5:c.1372A>G	ENSP00000420997.1:n.1372A>G
ENST00000514141.5:c.1258A>G	ENSP00000423526.1:p.Arg420Gly
ENST00000515295.5:c.1258A>G	ENSP00000424174.1:p.Arg420Gly
NM_016218.2:c.1258A>G	NP_057302.1:p.Arg420Gly
XM_005248534.3:c.1300A>G	XP_005248591.1:p.Arg434Gly
XM_005248536.2:c.1300A>G	XP_005248593.1:p.Arg434Gly
XM_006714652.2:c.13A>G	XP_006714715.1:p.Arg5Gly
XM_011543463.1:c.1300A>G	XP_011541765.1:p.Arg434Gly
XM_011543464.1:c.1300A>G	XP_011541766.1:p.Arg434Gly
XM_011543465.1:c.1300A>G	XP_011541767.1:p.Arg434Gly
XM_011543466.1:c.1300A>G	XP_011541768.1:p.Arg434Gly
XM_011543467.1:c.1030A>G	XP_011541769.1:p.Arg344Gly
XM_011543468.1:c.1258A>G	XP_011541770.1:p.Arg420Gly
XR_241783.2:n.1396A>G
XR_241784.1:n.1354A>G
XR_948273.1:n.1538A>G
NM_001345921.1:c.1060A>G	NP_001332850.1:p.Arg354Gly
NM_001345922.1:c.988A>G	NP_001332851.1:p.Arg330Gly
NM_016218.3:c.1258A>G	NP_057302.1:p.Arg420Gly
NR_144315.1:n.1436A>G
XM_005248534.5:c.1300A>G	XP_005248591.1:p.Arg434Gly
XM_006714652.4:c.13A>G	XP_006714715.1:p.Arg5Gly
XM_011543463.3:c.1300A>G	XP_011541765.1:p.Arg434Gly
XM_011543464.3:c.1300A>G	XP_011541766.1:p.Arg434Gly
XM_011543467.3:c.1030A>G	XP_011541769.1:p.Arg344Gly
XM_017009559.2:c.1258A>G	XP_016865048.1:p.Arg420Gly
XM_017009560.2:c.1258A>G	XP_016865049.1:p.Arg420Gly
XM_017009561.2:c.1102A>G	XP_016865050.1:p.Arg368Gly
XM_017009563.2:c.988A>G	XP_016865052.1:p.Arg330Gly
XR_001742105.2:n.1920A>G
XR_001742107.2:n.1920A>G
XR_001742108.2:n.1538A>G
XR_002956163.1:n.3472A>G
XR_241784.3:n.1878A>G
XR_948273.3:n.1538A>G
NM_001345921.2:c.1060A>G	NP_001332850.1:p.Arg354Gly
NM_001345922.2:c.988A>G	NP_001332851.1:p.Arg330Gly
NM_001387110.2:c.1258A>G	NP_001374039.1:p.Ser420Gly
NM_001387111.2:c.1300A>G	NP_001374040.1:p.Arg434Gly
NM_001387113.2:c.1258A>G	NP_001374042.1:p.Arg420Gly
NM_016218.5:c.1258A>G	NP_057302.1:p.Arg420Gly
NR_144315.2:n.1295A>G
NR_170559.2:n.1284A>G
NR_170560.2:n.1432A>G
NM_001345921.3:c.1060A>G	NP_001332850.1:p.Arg354Gly
NM_001345922.3:c.988A>G	NP_001332851.1:p.Arg330Gly
NM_001387110.3:c.1258A>G	NP_001374039.1:p.Ser420Gly
NM_001387111.3:c.1300A>G	NP_001374040.1:p.Arg434Gly
NM_001387113.3:c.1258A>G	NP_001374042.1:p.Arg420Gly
NM_001395893.1:c.988A>G	NP_001382822.1:p.Arg330Gly
NM_001395894.1:c.1300A>G	NP_001382823.1:p.Arg434Gly
NM_001395897.1:c.1297A>G	NP_001382826.1:p.Arg433Gly
NM_001395899.1:c.1105A>G	NP_001382828.1:p.Arg369Gly
NM_001395900.1:c.1060A>G	NP_001382829.1:p.Arg354Gly
NM_001395901.1:c.1018A>G	NP_001382830.1:p.Arg340Gly
NM_001395902.1:c.988A>G	NP_001382831.1:p.Arg330Gly
NM_016218.6:c.1258A>G MANE Select	NP_057302.1:p.Arg420Gly
NR_144315.3:n.1295A>G
NR_170559.3:n.1284A>G
NR_170560.3:n.1432A>G