Canonical Allele Identifier: CA360154868

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893595G>C (hg19) ; chr5:g.75597770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597770G>C , CM000667.2:g.75597770G>C	GRCh38
NC_000005.9:g.74893595G>C , CM000667.1:g.74893595G>C	GRCh37
NC_000005.8:g.74929351G>C	NCBI36
NG_051590.1:g.91021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2509G>C MANE Select	ENSP00000241436.4:p.Ala837Pro
ENST00000241436.8:c.2509G>C	ENSP00000241436.4:p.Ala837Pro
ENST00000502567.1:n.354G>C
ENST00000503479.6:c.*1032G>C	ENSP00000421997.2:n.*1032G>C
ENST00000504026.5:c.1380G>C	ENSP00000425075.1:p.Arg460Ser
ENST00000505069.1:n.89G>C
ENST00000505975.5:c.2623G>C	ENSP00000424859.1:n.2623G>C
ENST00000506928.5:n.2632G>C
ENST00000508526.5:c.1915G>C	ENSP00000426853.1:p.Ala639Pro
ENST00000509126.2:c.2337G>C	ENSP00000423532.1:n.2337G>C
ENST00000510815.6:c.*1032G>C	ENSP00000422094.2:n.*1032G>C
ENST00000511527.5:c.1494G>C	ENSP00000420997.1:n.1494G>C
ENST00000514141.5:c.*1128G>C	ENSP00000423526.1:n.*1128G>C
NM_016218.2:c.2509G>C	NP_057302.1:p.Ala837Pro
XM_005248534.3:c.2551G>C	XP_005248591.1:p.Ala851Pro
XM_006714652.2:c.1264G>C	XP_006714715.1:p.Ala422Pro
XM_011543463.1:c.2551G>C	XP_011541765.1:p.Ala851Pro
XM_011543464.1:c.2551G>C	XP_011541766.1:p.Ala851Pro
XM_011543465.1:c.2551G>C	XP_011541767.1:p.Ala851Pro
XM_011543466.1:c.2551G>C	XP_011541768.1:p.Ala851Pro
XM_011543467.1:c.2281G>C	XP_011541769.1:p.Ala761Pro
XR_241784.1:n.2517G>C
XR_948273.1:n.2701G>C
NM_001345921.1:c.2311G>C	NP_001332850.1:p.Ala771Pro
NM_001345922.1:c.2239G>C	NP_001332851.1:p.Ala747Pro
NM_016218.3:c.2509G>C	NP_057302.1:p.Ala837Pro
NR_144315.1:n.2515G>C
XM_005248534.5:c.2551G>C	XP_005248591.1:p.Ala851Pro
XM_006714652.4:c.1264G>C	XP_006714715.1:p.Ala422Pro
XM_011543463.3:c.2551G>C	XP_011541765.1:p.Ala851Pro
XM_011543464.3:c.2551G>C	XP_011541766.1:p.Ala851Pro
XM_011543467.3:c.2281G>C	XP_011541769.1:p.Ala761Pro
XM_017009559.2:c.2509G>C	XP_016865048.1:p.Ala837Pro
XM_017009560.2:c.2509G>C	XP_016865049.1:p.Ala837Pro
XM_017009561.2:c.2353G>C	XP_016865050.1:p.Ala785Pro
XM_017009563.2:c.2239G>C	XP_016865052.1:p.Ala747Pro
XR_001742105.2:n.2999G>C
XR_001742107.2:n.3083G>C
XR_001742108.2:n.2617G>C
XR_241784.3:n.3041G>C
XR_948273.3:n.2701G>C
NM_001345921.2:c.2311G>C	NP_001332850.1:p.Ala771Pro
NM_001345922.2:c.2239G>C	NP_001332851.1:p.Ala747Pro
NM_001387110.2:c.2500G>C	NP_001374039.1:p.Ala834Pro
NM_001387111.2:c.2551G>C	NP_001374040.1:p.Ala851Pro
NM_001387113.2:c.2509G>C	NP_001374042.1:p.Ala837Pro
NM_016218.5:c.2509G>C	NP_057302.1:p.Ala837Pro
NR_144315.2:n.2374G>C
NR_170559.2:n.2363G>C
NR_170560.2:n.2595G>C
NM_001345921.3:c.2311G>C	NP_001332850.1:p.Ala771Pro
NM_001345922.3:c.2239G>C	NP_001332851.1:p.Ala747Pro
NM_001387110.3:c.2500G>C	NP_001374039.1:p.Ala834Pro
NM_001387111.3:c.2551G>C	NP_001374040.1:p.Ala851Pro
NM_001387113.3:c.2509G>C	NP_001374042.1:p.Ala837Pro
NM_001395893.1:c.2239G>C	NP_001382822.1:p.Ala747Pro
NM_001395894.1:c.2551G>C	NP_001382823.1:p.Ala851Pro
NM_001395897.1:c.2548G>C	NP_001382826.1:p.Ala850Pro
NM_001395899.1:c.2356G>C	NP_001382828.1:p.Ala786Pro
NM_001395900.1:c.2311G>C	NP_001382829.1:p.Ala771Pro
NM_001395901.1:c.2269G>C	NP_001382830.1:p.Ala757Pro
NM_001395902.1:c.2239G>C	NP_001382831.1:p.Ala747Pro
NM_016218.6:c.2509G>C MANE Select	NP_057302.1:p.Ala837Pro
NR_144315.3:n.2374G>C
NR_170559.3:n.2363G>C
NR_170560.3:n.2595G>C