Canonical Allele Identifier: CA360148736

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74882881G>C (hg19) ; chr5:g.75587056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75587056G>C , CM000667.2:g.75587056G>C	GRCh38
NC_000005.9:g.74882881G>C , CM000667.1:g.74882881G>C	GRCh37
NC_000005.8:g.74918637G>C	NCBI36
NG_051590.1:g.80307G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.1257G>C MANE Select	ENSP00000241436.4:p.Glu419Asp
ENST00000241436.8:c.1257G>C	ENSP00000241436.4:p.Glu419Asp
ENST00000503479.6:c.1059G>C	ENSP00000421997.2:p.Glu353Asp
ENST00000504026.5:c.1257G>C	ENSP00000425075.1:p.Glu419Asp
ENST00000505975.5:c.1371G>C	ENSP00000424859.1:n.1371G>C
ENST00000506928.5:n.1380G>C
ENST00000508526.5:c.934+5608G>C	ENSP00000426853.1:n.934+5608G>C
ENST00000509126.2:c.1257G>C	ENSP00000423532.1:p.Glu419Asp
ENST00000510815.6:c.987G>C	ENSP00000422094.2:p.Glu329Asp
ENST00000511527.5:c.1371G>C	ENSP00000420997.1:n.1371G>C
ENST00000514141.5:c.1257G>C	ENSP00000423526.1:p.Glu419Asp
ENST00000515295.5:c.1257G>C	ENSP00000424174.1:p.Glu419Asp
NM_016218.2:c.1257G>C	NP_057302.1:p.Glu419Asp
XM_005248534.3:c.1299G>C	XP_005248591.1:p.Glu433Asp
XM_005248536.2:c.1299G>C	XP_005248593.1:p.Glu433Asp
XM_006714652.2:c.12G>C	XP_006714715.1:p.Glu4Asp
XM_011543463.1:c.1299G>C	XP_011541765.1:p.Glu433Asp
XM_011543464.1:c.1299G>C	XP_011541766.1:p.Glu433Asp
XM_011543465.1:c.1299G>C	XP_011541767.1:p.Glu433Asp
XM_011543466.1:c.1299G>C	XP_011541768.1:p.Glu433Asp
XM_011543467.1:c.1029G>C	XP_011541769.1:p.Glu343Asp
XM_011543468.1:c.1257G>C	XP_011541770.1:p.Glu419Asp
XR_241783.2:n.1395G>C
XR_241784.1:n.1353G>C
XR_948273.1:n.1537G>C
NM_001345921.1:c.1059G>C	NP_001332850.1:p.Glu353Asp
NM_001345922.1:c.987G>C	NP_001332851.1:p.Glu329Asp
NM_016218.3:c.1257G>C	NP_057302.1:p.Glu419Asp
NR_144315.1:n.1435G>C
XM_005248534.5:c.1299G>C	XP_005248591.1:p.Glu433Asp
XM_006714652.4:c.12G>C	XP_006714715.1:p.Glu4Asp
XM_011543463.3:c.1299G>C	XP_011541765.1:p.Glu433Asp
XM_011543464.3:c.1299G>C	XP_011541766.1:p.Glu433Asp
XM_011543467.3:c.1029G>C	XP_011541769.1:p.Glu343Asp
XM_017009559.2:c.1257G>C	XP_016865048.1:p.Glu419Asp
XM_017009560.2:c.1257G>C	XP_016865049.1:p.Glu419Asp
XM_017009561.2:c.1101G>C	XP_016865050.1:p.Glu367Asp
XM_017009563.2:c.987G>C	XP_016865052.1:p.Glu329Asp
XR_001742105.2:n.1919G>C
XR_001742107.2:n.1919G>C
XR_001742108.2:n.1537G>C
XR_002956163.1:n.3471G>C
XR_241784.3:n.1877G>C
XR_948273.3:n.1537G>C
NM_001345921.2:c.1059G>C	NP_001332850.1:p.Glu353Asp
NM_001345922.2:c.987G>C	NP_001332851.1:p.Glu329Asp
NM_001387110.2:c.1257G>C	NP_001374039.1:p.Glu419Asp
NM_001387111.2:c.1299G>C	NP_001374040.1:p.Glu433Asp
NM_001387113.2:c.1257G>C	NP_001374042.1:p.Glu419Asp
NM_016218.5:c.1257G>C	NP_057302.1:p.Glu419Asp
NR_144315.2:n.1294G>C
NR_170559.2:n.1283G>C
NR_170560.2:n.1431G>C
NM_001345921.3:c.1059G>C	NP_001332850.1:p.Glu353Asp
NM_001345922.3:c.987G>C	NP_001332851.1:p.Glu329Asp
NM_001387110.3:c.1257G>C	NP_001374039.1:p.Glu419Asp
NM_001387111.3:c.1299G>C	NP_001374040.1:p.Glu433Asp
NM_001387113.3:c.1257G>C	NP_001374042.1:p.Glu419Asp
NM_001395893.1:c.987G>C	NP_001382822.1:p.Glu329Asp
NM_001395894.1:c.1299G>C	NP_001382823.1:p.Glu433Asp
NM_001395897.1:c.1296G>C	NP_001382826.1:p.Glu432Asp
NM_001395899.1:c.1104G>C	NP_001382828.1:p.Glu368Asp
NM_001395900.1:c.1059G>C	NP_001382829.1:p.Glu353Asp
NM_001395901.1:c.1017G>C	NP_001382830.1:p.Glu339Asp
NM_001395902.1:c.987G>C	NP_001382831.1:p.Glu329Asp
NM_016218.6:c.1257G>C MANE Select	NP_057302.1:p.Glu419Asp
NR_144315.3:n.1294G>C
NR_170559.3:n.1283G>C
NR_170560.3:n.1431G>C