Canonical Allele Identifier: CA360148739

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74882882A>T (hg19) ; chr5:g.75587057A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.1258A>T MANE Select	ENSP00000241436.4:p.Arg420Trp
ENST00000241436.8:c.1258A>T	ENSP00000241436.4:p.Arg420Trp
ENST00000503479.6:c.1060A>T	ENSP00000421997.2:p.Arg354Trp
ENST00000504026.5:c.1258A>T	ENSP00000425075.1:p.Arg420Trp
ENST00000505975.5:c.1372A>T	ENSP00000424859.1:n.1372A>T
ENST00000506928.5:n.1381A>T
ENST00000508526.5:c.934+5609A>T	ENSP00000426853.1:n.934+5609A>T
ENST00000509126.2:c.1258A>T	ENSP00000423532.1:p.Arg420Trp
ENST00000510815.6:c.988A>T	ENSP00000422094.2:p.Arg330Trp
ENST00000511527.5:c.1372A>T	ENSP00000420997.1:n.1372A>T
ENST00000514141.5:c.1258A>T	ENSP00000423526.1:p.Arg420Trp
ENST00000515295.5:c.1258A>T	ENSP00000424174.1:p.Arg420Trp
NM_016218.2:c.1258A>T	NP_057302.1:p.Arg420Trp
XM_005248534.3:c.1300A>T	XP_005248591.1:p.Arg434Trp
XM_005248536.2:c.1300A>T	XP_005248593.1:p.Arg434Trp
XM_006714652.2:c.13A>T	XP_006714715.1:p.Arg5Trp
XM_011543463.1:c.1300A>T	XP_011541765.1:p.Arg434Trp
XM_011543464.1:c.1300A>T	XP_011541766.1:p.Arg434Trp
XM_011543465.1:c.1300A>T	XP_011541767.1:p.Arg434Trp
XM_011543466.1:c.1300A>T	XP_011541768.1:p.Arg434Trp
XM_011543467.1:c.1030A>T	XP_011541769.1:p.Arg344Trp
XM_011543468.1:c.1258A>T	XP_011541770.1:p.Arg420Trp
XR_241783.2:n.1396A>T
XR_241784.1:n.1354A>T
XR_948273.1:n.1538A>T
NM_001345921.1:c.1060A>T	NP_001332850.1:p.Arg354Trp
NM_001345922.1:c.988A>T	NP_001332851.1:p.Arg330Trp
NM_016218.3:c.1258A>T	NP_057302.1:p.Arg420Trp
NR_144315.1:n.1436A>T
XM_005248534.5:c.1300A>T	XP_005248591.1:p.Arg434Trp
XM_006714652.4:c.13A>T	XP_006714715.1:p.Arg5Trp
XM_011543463.3:c.1300A>T	XP_011541765.1:p.Arg434Trp
XM_011543464.3:c.1300A>T	XP_011541766.1:p.Arg434Trp
XM_011543467.3:c.1030A>T	XP_011541769.1:p.Arg344Trp
XM_017009559.2:c.1258A>T	XP_016865048.1:p.Arg420Trp
XM_017009560.2:c.1258A>T	XP_016865049.1:p.Arg420Trp
XM_017009561.2:c.1102A>T	XP_016865050.1:p.Arg368Trp
XM_017009563.2:c.988A>T	XP_016865052.1:p.Arg330Trp
XR_001742105.2:n.1920A>T
XR_001742107.2:n.1920A>T
XR_001742108.2:n.1538A>T
XR_002956163.1:n.3472A>T
XR_241784.3:n.1878A>T
XR_948273.3:n.1538A>T
NM_001345921.2:c.1060A>T	NP_001332850.1:p.Arg354Trp
NM_001345922.2:c.988A>T	NP_001332851.1:p.Arg330Trp
NM_001387110.2:c.1258A>T	NP_001374039.1:p.Ser420Cys
NM_001387111.2:c.1300A>T	NP_001374040.1:p.Arg434Trp
NM_001387113.2:c.1258A>T	NP_001374042.1:p.Arg420Trp
NM_016218.5:c.1258A>T	NP_057302.1:p.Arg420Trp
NR_144315.2:n.1295A>T
NR_170559.2:n.1284A>T
NR_170560.2:n.1432A>T
NM_001345921.3:c.1060A>T	NP_001332850.1:p.Arg354Trp
NM_001345922.3:c.988A>T	NP_001332851.1:p.Arg330Trp
NM_001387110.3:c.1258A>T	NP_001374039.1:p.Ser420Cys
NM_001387111.3:c.1300A>T	NP_001374040.1:p.Arg434Trp
NM_001387113.3:c.1258A>T	NP_001374042.1:p.Arg420Trp
NM_001395893.1:c.988A>T	NP_001382822.1:p.Arg330Trp
NM_001395894.1:c.1300A>T	NP_001382823.1:p.Arg434Trp
NM_001395897.1:c.1297A>T	NP_001382826.1:p.Arg433Trp
NM_001395899.1:c.1105A>T	NP_001382828.1:p.Arg369Trp
NM_001395900.1:c.1060A>T	NP_001382829.1:p.Arg354Trp
NM_001395901.1:c.1018A>T	NP_001382830.1:p.Arg340Trp
NM_001395902.1:c.988A>T	NP_001382831.1:p.Arg330Trp
NM_016218.6:c.1258A>T MANE Select	NP_057302.1:p.Arg420Trp
NR_144315.3:n.1295A>T
NR_170559.3:n.1284A>T
NR_170560.3:n.1432A>T