Canonical Allele Identifier: CA360148735

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74882880A>T (hg19) ; chr5:g.75587055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75587055A>T , CM000667.2:g.75587055A>T	GRCh38
NC_000005.9:g.74882880A>T , CM000667.1:g.74882880A>T	GRCh37
NC_000005.8:g.74918636A>T	NCBI36
NG_051590.1:g.80306A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.1256A>T MANE Select	ENSP00000241436.4:p.Glu419Val
ENST00000241436.8:c.1256A>T	ENSP00000241436.4:p.Glu419Val
ENST00000503479.6:c.1058A>T	ENSP00000421997.2:p.Glu353Val
ENST00000504026.5:c.1256A>T	ENSP00000425075.1:p.Glu419Val
ENST00000505975.5:c.1370A>T	ENSP00000424859.1:n.1370A>T
ENST00000506928.5:n.1379A>T
ENST00000508526.5:c.934+5607A>T	ENSP00000426853.1:n.934+5607A>T
ENST00000509126.2:c.1256A>T	ENSP00000423532.1:p.Glu419Val
ENST00000510815.6:c.986A>T	ENSP00000422094.2:p.Glu329Val
ENST00000511527.5:c.1370A>T	ENSP00000420997.1:n.1370A>T
ENST00000514141.5:c.1256A>T	ENSP00000423526.1:p.Glu419Val
ENST00000515295.5:c.1256A>T	ENSP00000424174.1:p.Glu419Val
NM_016218.2:c.1256A>T	NP_057302.1:p.Glu419Val
XM_005248534.3:c.1298A>T	XP_005248591.1:p.Glu433Val
XM_005248536.2:c.1298A>T	XP_005248593.1:p.Glu433Val
XM_006714652.2:c.11A>T	XP_006714715.1:p.Glu4Val
XM_011543463.1:c.1298A>T	XP_011541765.1:p.Glu433Val
XM_011543464.1:c.1298A>T	XP_011541766.1:p.Glu433Val
XM_011543465.1:c.1298A>T	XP_011541767.1:p.Glu433Val
XM_011543466.1:c.1298A>T	XP_011541768.1:p.Glu433Val
XM_011543467.1:c.1028A>T	XP_011541769.1:p.Glu343Val
XM_011543468.1:c.1256A>T	XP_011541770.1:p.Glu419Val
XR_241783.2:n.1394A>T
XR_241784.1:n.1352A>T
XR_948273.1:n.1536A>T
NM_001345921.1:c.1058A>T	NP_001332850.1:p.Glu353Val
NM_001345922.1:c.986A>T	NP_001332851.1:p.Glu329Val
NM_016218.3:c.1256A>T	NP_057302.1:p.Glu419Val
NR_144315.1:n.1434A>T
XM_005248534.5:c.1298A>T	XP_005248591.1:p.Glu433Val
XM_006714652.4:c.11A>T	XP_006714715.1:p.Glu4Val
XM_011543463.3:c.1298A>T	XP_011541765.1:p.Glu433Val
XM_011543464.3:c.1298A>T	XP_011541766.1:p.Glu433Val
XM_011543467.3:c.1028A>T	XP_011541769.1:p.Glu343Val
XM_017009559.2:c.1256A>T	XP_016865048.1:p.Glu419Val
XM_017009560.2:c.1256A>T	XP_016865049.1:p.Glu419Val
XM_017009561.2:c.1100A>T	XP_016865050.1:p.Glu367Val
XM_017009563.2:c.986A>T	XP_016865052.1:p.Glu329Val
XR_001742105.2:n.1918A>T
XR_001742107.2:n.1918A>T
XR_001742108.2:n.1536A>T
XR_002956163.1:n.3470A>T
XR_241784.3:n.1876A>T
XR_948273.3:n.1536A>T
NM_001345921.2:c.1058A>T	NP_001332850.1:p.Glu353Val
NM_001345922.2:c.986A>T	NP_001332851.1:p.Glu329Val
NM_001387110.2:c.1256A>T	NP_001374039.1:p.Glu419Val
NM_001387111.2:c.1298A>T	NP_001374040.1:p.Glu433Val
NM_001387113.2:c.1256A>T	NP_001374042.1:p.Glu419Val
NM_016218.5:c.1256A>T	NP_057302.1:p.Glu419Val
NR_144315.2:n.1293A>T
NR_170559.2:n.1282A>T
NR_170560.2:n.1430A>T
NM_001345921.3:c.1058A>T	NP_001332850.1:p.Glu353Val
NM_001345922.3:c.986A>T	NP_001332851.1:p.Glu329Val
NM_001387110.3:c.1256A>T	NP_001374039.1:p.Glu419Val
NM_001387111.3:c.1298A>T	NP_001374040.1:p.Glu433Val
NM_001387113.3:c.1256A>T	NP_001374042.1:p.Glu419Val
NM_001395893.1:c.986A>T	NP_001382822.1:p.Glu329Val
NM_001395894.1:c.1298A>T	NP_001382823.1:p.Glu433Val
NM_001395897.1:c.1295A>T	NP_001382826.1:p.Glu432Val
NM_001395899.1:c.1103A>T	NP_001382828.1:p.Glu368Val
NM_001395900.1:c.1058A>T	NP_001382829.1:p.Glu353Val
NM_001395901.1:c.1016A>T	NP_001382830.1:p.Glu339Val
NM_001395902.1:c.986A>T	NP_001382831.1:p.Glu329Val
NM_016218.6:c.1256A>T MANE Select	NP_057302.1:p.Glu419Val
NR_144315.3:n.1293A>T
NR_170559.3:n.1282A>T
NR_170560.3:n.1430A>T