Canonical Allele Identifier: CA360148740

Gene: POLK

Linked Data

• gnomAD v4: 5-75587058-G-A
• MyVariant Identifiers: chr5:g.74882883G>A (hg19) ; chr5:g.75587058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75587058G>A , CM000667.2:g.75587058G>A	GRCh38
NC_000005.9:g.74882883G>A , CM000667.1:g.74882883G>A	GRCh37
NC_000005.8:g.74918639G>A	NCBI36
NG_051590.1:g.80309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.1259G>A MANE Select	ENSP00000241436.4:p.Arg420Lys
ENST00000241436.8:c.1259G>A	ENSP00000241436.4:p.Arg420Lys
ENST00000503479.6:c.1061G>A	ENSP00000421997.2:p.Arg354Lys
ENST00000504026.5:c.1259G>A	ENSP00000425075.1:p.Arg420Lys
ENST00000505975.5:c.1373G>A	ENSP00000424859.1:n.1373G>A
ENST00000506928.5:n.1382G>A
ENST00000508526.5:c.934+5610G>A	ENSP00000426853.1:n.934+5610G>A
ENST00000509126.2:c.1259G>A	ENSP00000423532.1:p.Arg420Lys
ENST00000510815.6:c.989G>A	ENSP00000422094.2:p.Arg330Lys
ENST00000511527.5:c.1373G>A	ENSP00000420997.1:n.1373G>A
ENST00000514141.5:c.1259G>A	ENSP00000423526.1:p.Arg420Lys
ENST00000515295.5:c.1259G>A	ENSP00000424174.1:p.Arg420Lys
NM_016218.2:c.1259G>A	NP_057302.1:p.Arg420Lys
XM_005248534.3:c.1301G>A	XP_005248591.1:p.Arg434Lys
XM_005248536.2:c.1301G>A	XP_005248593.1:p.Arg434Lys
XM_006714652.2:c.14G>A	XP_006714715.1:p.Arg5Lys
XM_011543463.1:c.1301G>A	XP_011541765.1:p.Arg434Lys
XM_011543464.1:c.1301G>A	XP_011541766.1:p.Arg434Lys
XM_011543465.1:c.1301G>A	XP_011541767.1:p.Arg434Lys
XM_011543466.1:c.1301G>A	XP_011541768.1:p.Arg434Lys
XM_011543467.1:c.1031G>A	XP_011541769.1:p.Arg344Lys
XM_011543468.1:c.1259G>A	XP_011541770.1:p.Arg420Lys
XR_241783.2:n.1397G>A
XR_241784.1:n.1355G>A
XR_948273.1:n.1539G>A
NM_001345921.1:c.1061G>A	NP_001332850.1:p.Arg354Lys
NM_001345922.1:c.989G>A	NP_001332851.1:p.Arg330Lys
NM_016218.3:c.1259G>A	NP_057302.1:p.Arg420Lys
NR_144315.1:n.1437G>A
XM_005248534.5:c.1301G>A	XP_005248591.1:p.Arg434Lys
XM_006714652.4:c.14G>A	XP_006714715.1:p.Arg5Lys
XM_011543463.3:c.1301G>A	XP_011541765.1:p.Arg434Lys
XM_011543464.3:c.1301G>A	XP_011541766.1:p.Arg434Lys
XM_011543467.3:c.1031G>A	XP_011541769.1:p.Arg344Lys
XM_017009559.2:c.1259G>A	XP_016865048.1:p.Arg420Lys
XM_017009560.2:c.1259G>A	XP_016865049.1:p.Arg420Lys
XM_017009561.2:c.1103G>A	XP_016865050.1:p.Arg368Lys
XM_017009563.2:c.989G>A	XP_016865052.1:p.Arg330Lys
XR_001742105.2:n.1921G>A
XR_001742107.2:n.1921G>A
XR_001742108.2:n.1539G>A
XR_002956163.1:n.3473G>A
XR_241784.3:n.1879G>A
XR_948273.3:n.1539G>A
NM_001345921.2:c.1061G>A	NP_001332850.1:p.Arg354Lys
NM_001345922.2:c.989G>A	NP_001332851.1:p.Arg330Lys
NM_001387110.2:c.1259G>A	NP_001374039.1:p.Ser420Asn
NM_001387111.2:c.1301G>A	NP_001374040.1:p.Arg434Lys
NM_001387113.2:c.1259G>A	NP_001374042.1:p.Arg420Lys
NM_016218.5:c.1259G>A	NP_057302.1:p.Arg420Lys
NR_144315.2:n.1296G>A
NR_170559.2:n.1285G>A
NR_170560.2:n.1433G>A
NM_001345921.3:c.1061G>A	NP_001332850.1:p.Arg354Lys
NM_001345922.3:c.989G>A	NP_001332851.1:p.Arg330Lys
NM_001387110.3:c.1259G>A	NP_001374039.1:p.Ser420Asn
NM_001387111.3:c.1301G>A	NP_001374040.1:p.Arg434Lys
NM_001387113.3:c.1259G>A	NP_001374042.1:p.Arg420Lys
NM_001395893.1:c.989G>A	NP_001382822.1:p.Arg330Lys
NM_001395894.1:c.1301G>A	NP_001382823.1:p.Arg434Lys
NM_001395897.1:c.1298G>A	NP_001382826.1:p.Arg433Lys
NM_001395899.1:c.1106G>A	NP_001382828.1:p.Arg369Lys
NM_001395900.1:c.1061G>A	NP_001382829.1:p.Arg354Lys
NM_001395901.1:c.1019G>A	NP_001382830.1:p.Arg340Lys
NM_001395902.1:c.989G>A	NP_001382831.1:p.Arg330Lys
NM_016218.6:c.1259G>A MANE Select	NP_057302.1:p.Arg420Lys
NR_144315.3:n.1296G>A
NR_170559.3:n.1285G>A
NR_170560.3:n.1433G>A