Canonical Allele Identifier: CA2674280408

Gene: POLK

Linked Data

• gnomAD v4: 5-75597845-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597845T>C , CM000667.2:g.75597845T>C	GRCh38
NC_000005.9:g.74893670T>C , CM000667.1:g.74893670T>C	GRCh37
NC_000005.8:g.74929426T>C	NCBI36
NG_051590.1:g.91096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2528+56T>C MANE Select	ENSP00000241436.4:n.2528+56T>C
ENST00000241436.8:c.2528+56T>C	ENSP00000241436.4:n.2528+56T>C
ENST00000502567.1:n.373+56T>C
ENST00000503479.6:c.*1051+56T>C	ENSP00000421997.2:n.*1051+56T>C
ENST00000504026.5:c.1399+56T>C	ENSP00000425075.1:n.1399+56T>C
ENST00000505069.1:n.164T>C
ENST00000505975.5:c.2642+56T>C	ENSP00000424859.1:n.2642+56T>C
ENST00000506928.5:n.2651+56T>C
ENST00000508526.5:c.1934+56T>C	ENSP00000426853.1:n.1934+56T>C
ENST00000509126.2:c.2356+56T>C	ENSP00000423532.1:n.2356+56T>C
ENST00000510815.6:c.*1051+56T>C	ENSP00000422094.2:n.*1051+56T>C
ENST00000511527.5:c.1513+56T>C	ENSP00000420997.1:n.1513+56T>C
ENST00000514141.5:c.*1147+56T>C	ENSP00000423526.1:n.*1147+56T>C
NM_016218.2:c.2528+56T>C	NP_057302.1:n.2528+56T>C
XM_005248534.3:c.2570+56T>C	XP_005248591.1:n.2570+56T>C
XM_006714652.2:c.1283+56T>C	XP_006714715.1:n.1283+56T>C
XM_011543463.1:c.2570+56T>C	XP_011541765.1:n.2570+56T>C
XM_011543464.1:c.2570+56T>C	XP_011541766.1:n.2570+56T>C
XM_011543465.1:c.2570+56T>C	XP_011541767.1:n.2570+56T>C
XM_011543466.1:c.2570+56T>C	XP_011541768.1:n.2570+56T>C
XM_011543467.1:c.2300+56T>C	XP_011541769.1:n.2300+56T>C
XR_241784.1:n.2536+56T>C
XR_948273.1:n.2720+56T>C
NM_001345921.1:c.2330+56T>C	NP_001332850.1:n.2330+56T>C
NM_001345922.1:c.2258+56T>C	NP_001332851.1:n.2258+56T>C
NM_016218.3:c.2528+56T>C	NP_057302.1:n.2528+56T>C
NR_144315.1:n.2534+56T>C
XM_005248534.5:c.2570+56T>C	XP_005248591.1:n.2570+56T>C
XM_006714652.4:c.1283+56T>C	XP_006714715.1:n.1283+56T>C
XM_011543463.3:c.2570+56T>C	XP_011541765.1:n.2570+56T>C
XM_011543464.3:c.2570+56T>C	XP_011541766.1:n.2570+56T>C
XM_011543467.3:c.2300+56T>C	XP_011541769.1:n.2300+56T>C
XM_017009559.2:c.2528+56T>C	XP_016865048.1:n.2528+56T>C
XM_017009560.2:c.2528+56T>C	XP_016865049.1:n.2528+56T>C
XM_017009561.2:c.2372+56T>C	XP_016865050.1:n.2372+56T>C
XM_017009563.2:c.2258+56T>C	XP_016865052.1:n.2258+56T>C
XR_001742105.2:n.3018+56T>C
XR_001742107.2:n.3102+56T>C
XR_001742108.2:n.2636+56T>C
XR_241784.3:n.3060+56T>C
XR_948273.3:n.2720+56T>C
NM_001345921.2:c.2330+56T>C	NP_001332850.1:n.2330+56T>C
NM_001345922.2:c.2258+56T>C	NP_001332851.1:n.2258+56T>C
NM_001387110.2:c.2519+56T>C	NP_001374039.1:n.2519+56T>C
NM_001387111.2:c.2570+56T>C	NP_001374040.1:n.2570+56T>C
NM_001387113.2:c.2528+56T>C	NP_001374042.1:n.2528+56T>C
NM_016218.5:c.2528+56T>C	NP_057302.1:n.2528+56T>C
NR_144315.2:n.2393+56T>C
NR_170559.2:n.2382+56T>C
NR_170560.2:n.2614+56T>C
NM_001345921.3:c.2330+56T>C	NP_001332850.1:n.2330+56T>C
NM_001345922.3:c.2258+56T>C	NP_001332851.1:n.2258+56T>C
NM_001387110.3:c.2519+56T>C	NP_001374039.1:n.2519+56T>C
NM_001387111.3:c.2570+56T>C	NP_001374040.1:n.2570+56T>C
NM_001387113.3:c.2528+56T>C	NP_001374042.1:n.2528+56T>C
NM_001395893.1:c.2258+56T>C	NP_001382822.1:n.2258+56T>C
NM_001395894.1:c.2570+56T>C	NP_001382823.1:n.2570+56T>C
NM_001395897.1:c.2567+56T>C	NP_001382826.1:n.2567+56T>C
NM_001395899.1:c.2375+56T>C	NP_001382828.1:n.2375+56T>C
NM_001395900.1:c.2330+56T>C	NP_001382829.1:n.2330+56T>C
NM_001395901.1:c.2288+56T>C	NP_001382830.1:n.2288+56T>C
NM_001395902.1:c.2258+56T>C	NP_001382831.1:n.2258+56T>C
NM_016218.6:c.2528+56T>C MANE Select	NP_057302.1:n.2528+56T>C
NR_144315.3:n.2393+56T>C
NR_170559.3:n.2382+56T>C
NR_170560.3:n.2614+56T>C