Canonical Allele Identifier: CA360154941

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893768G>C (hg19) ; chr5:g.75597943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597943G>C , CM000667.2:g.75597943G>C	GRCh38
NC_000005.9:g.74893768G>C , CM000667.1:g.74893768G>C	GRCh37
NC_000005.8:g.74929524G>C	NCBI36
NG_051590.1:g.91194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2538G>C MANE Select	ENSP00000241436.4:p.Leu846Phe
ENST00000241436.8:c.2538G>C	ENSP00000241436.4:p.Leu846Phe
ENST00000502567.1:n.383G>C
ENST00000503479.6:c.*1061G>C	ENSP00000421997.2:n.*1061G>C
ENST00000504026.5:c.1409G>C	ENSP00000425075.1:n.1409G>C
ENST00000505069.1:n.262G>C
ENST00000505975.5:c.2652G>C	ENSP00000424859.1:n.2652G>C
ENST00000506928.5:n.2661G>C
ENST00000508526.5:c.1944G>C	ENSP00000426853.1:p.Leu648Phe
ENST00000509126.2:c.2366G>C	ENSP00000423532.1:n.2366G>C
ENST00000510815.6:c.*1061G>C	ENSP00000422094.2:n.*1061G>C
ENST00000511527.5:c.1523G>C	ENSP00000420997.1:n.1523G>C
ENST00000514141.5:c.*1157G>C	ENSP00000423526.1:n.*1157G>C
NM_016218.2:c.2538G>C	NP_057302.1:p.Leu846Phe
XM_005248534.3:c.2580G>C	XP_005248591.1:p.Leu860Phe
XM_006714652.2:c.1293G>C	XP_006714715.1:p.Leu431Phe
XM_011543463.1:c.2580G>C	XP_011541765.1:p.Leu860Phe
XM_011543464.1:c.2580G>C	XP_011541766.1:p.Leu860Phe
XM_011543465.1:c.2580G>C	XP_011541767.1:p.Leu860Phe
XM_011543466.1:c.2580G>C	XP_011541768.1:p.Leu860Phe
XM_011543467.1:c.2310G>C	XP_011541769.1:p.Leu770Phe
XR_241784.1:n.2546G>C
XR_948273.1:n.2730G>C
NM_001345921.1:c.2340G>C	NP_001332850.1:p.Leu780Phe
NM_001345922.1:c.2268G>C	NP_001332851.1:p.Leu756Phe
NM_016218.3:c.2538G>C	NP_057302.1:p.Leu846Phe
NR_144315.1:n.2544G>C
XM_005248534.5:c.2580G>C	XP_005248591.1:p.Leu860Phe
XM_006714652.4:c.1293G>C	XP_006714715.1:p.Leu431Phe
XM_011543463.3:c.2580G>C	XP_011541765.1:p.Leu860Phe
XM_011543464.3:c.2580G>C	XP_011541766.1:p.Leu860Phe
XM_011543467.3:c.2310G>C	XP_011541769.1:p.Leu770Phe
XM_017009559.2:c.2538G>C	XP_016865048.1:p.Leu846Phe
XM_017009560.2:c.2538G>C	XP_016865049.1:p.Leu846Phe
XM_017009561.2:c.2382G>C	XP_016865050.1:p.Leu794Phe
XM_017009563.2:c.2268G>C	XP_016865052.1:p.Leu756Phe
XR_001742105.2:n.3028G>C
XR_001742107.2:n.3112G>C
XR_001742108.2:n.2646G>C
XR_241784.3:n.3070G>C
XR_948273.3:n.2730G>C
NM_001345921.2:c.2340G>C	NP_001332850.1:p.Leu780Phe
NM_001345922.2:c.2268G>C	NP_001332851.1:p.Leu756Phe
NM_001387110.2:c.2529G>C	NP_001374039.1:p.Leu843Phe
NM_001387111.2:c.2580G>C	NP_001374040.1:p.Leu860Phe
NM_001387113.2:c.2538G>C	NP_001374042.1:p.Leu846Phe
NM_016218.5:c.2538G>C	NP_057302.1:p.Leu846Phe
NR_144315.2:n.2403G>C
NR_170559.2:n.2392G>C
NR_170560.2:n.2624G>C
NM_001345921.3:c.2340G>C	NP_001332850.1:p.Leu780Phe
NM_001345922.3:c.2268G>C	NP_001332851.1:p.Leu756Phe
NM_001387110.3:c.2529G>C	NP_001374039.1:p.Leu843Phe
NM_001387111.3:c.2580G>C	NP_001374040.1:p.Leu860Phe
NM_001387113.3:c.2538G>C	NP_001374042.1:p.Leu846Phe
NM_001395893.1:c.2268G>C	NP_001382822.1:p.Leu756Phe
NM_001395894.1:c.2580G>C	NP_001382823.1:p.Leu860Phe
NM_001395897.1:c.2577G>C	NP_001382826.1:p.Leu859Phe
NM_001395899.1:c.2385G>C	NP_001382828.1:p.Leu795Phe
NM_001395900.1:c.2340G>C	NP_001382829.1:p.Leu780Phe
NM_001395901.1:c.2298G>C	NP_001382830.1:p.Leu766Phe
NM_001395902.1:c.2268G>C	NP_001382831.1:p.Leu756Phe
NM_016218.6:c.2538G>C MANE Select	NP_057302.1:p.Leu846Phe
NR_144315.3:n.2403G>C
NR_170559.3:n.2392G>C
NR_170560.3:n.2624G>C