Canonical Allele Identifier: CA360154972

Gene: POLK

Linked Data

• gnomAD v4: 5-75597956-T-C
• MyVariant Identifiers: chr5:g.74893781T>C (hg19) ; chr5:g.75597956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597956T>C , CM000667.2:g.75597956T>C	GRCh38
NC_000005.9:g.74893781T>C , CM000667.1:g.74893781T>C	GRCh37
NC_000005.8:g.74929537T>C	NCBI36
NG_051590.1:g.91207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2551T>C MANE Select	ENSP00000241436.4:p.Ser851Pro
ENST00000241436.8:c.2551T>C	ENSP00000241436.4:p.Ser851Pro
ENST00000502567.1:n.396T>C
ENST00000503479.6:c.*1074T>C	ENSP00000421997.2:n.*1074T>C
ENST00000504026.5:c.1422T>C	ENSP00000425075.1:n.1422T>C
ENST00000505069.1:n.275T>C
ENST00000505975.5:c.2665T>C	ENSP00000424859.1:n.2665T>C
ENST00000506928.5:n.2674T>C
ENST00000508526.5:c.1957T>C	ENSP00000426853.1:p.Ser653Pro
ENST00000509126.2:c.2379T>C	ENSP00000423532.1:n.2379T>C
ENST00000510815.6:c.*1074T>C	ENSP00000422094.2:n.*1074T>C
ENST00000511527.5:c.1536T>C	ENSP00000420997.1:n.1536T>C
ENST00000514141.5:c.*1170T>C	ENSP00000423526.1:n.*1170T>C
NM_016218.2:c.2551T>C	NP_057302.1:p.Ser851Pro
XM_005248534.3:c.2593T>C	XP_005248591.1:p.Ser865Pro
XM_006714652.2:c.1306T>C	XP_006714715.1:p.Ser436Pro
XM_011543463.1:c.2593T>C	XP_011541765.1:p.Ser865Pro
XM_011543464.1:c.2593T>C	XP_011541766.1:p.Ser865Pro
XM_011543465.1:c.2593T>C	XP_011541767.1:p.Ser865Pro
XM_011543466.1:c.2593T>C	XP_011541768.1:p.Ser865Pro
XM_011543467.1:c.2323T>C	XP_011541769.1:p.Ser775Pro
XR_241784.1:n.2559T>C
XR_948273.1:n.2743T>C
NM_001345921.1:c.2353T>C	NP_001332850.1:p.Ser785Pro
NM_001345922.1:c.2281T>C	NP_001332851.1:p.Ser761Pro
NM_016218.3:c.2551T>C	NP_057302.1:p.Ser851Pro
NR_144315.1:n.2557T>C
XM_005248534.5:c.2593T>C	XP_005248591.1:p.Ser865Pro
XM_006714652.4:c.1306T>C	XP_006714715.1:p.Ser436Pro
XM_011543463.3:c.2593T>C	XP_011541765.1:p.Ser865Pro
XM_011543464.3:c.2593T>C	XP_011541766.1:p.Ser865Pro
XM_011543467.3:c.2323T>C	XP_011541769.1:p.Ser775Pro
XM_017009559.2:c.2551T>C	XP_016865048.1:p.Ser851Pro
XM_017009560.2:c.2551T>C	XP_016865049.1:p.Ser851Pro
XM_017009561.2:c.2395T>C	XP_016865050.1:p.Ser799Pro
XM_017009563.2:c.2281T>C	XP_016865052.1:p.Ser761Pro
XR_001742105.2:n.3041T>C
XR_001742107.2:n.3125T>C
XR_001742108.2:n.2659T>C
XR_241784.3:n.3083T>C
XR_948273.3:n.2743T>C
NM_001345921.2:c.2353T>C	NP_001332850.1:p.Ser785Pro
NM_001345922.2:c.2281T>C	NP_001332851.1:p.Ser761Pro
NM_001387110.2:c.2542T>C	NP_001374039.1:p.Ser848Pro
NM_001387111.2:c.2593T>C	NP_001374040.1:p.Ser865Pro
NM_001387113.2:c.2551T>C	NP_001374042.1:p.Ser851Pro
NM_016218.5:c.2551T>C	NP_057302.1:p.Ser851Pro
NR_144315.2:n.2416T>C
NR_170559.2:n.2405T>C
NR_170560.2:n.2637T>C
NM_001345921.3:c.2353T>C	NP_001332850.1:p.Ser785Pro
NM_001345922.3:c.2281T>C	NP_001332851.1:p.Ser761Pro
NM_001387110.3:c.2542T>C	NP_001374039.1:p.Ser848Pro
NM_001387111.3:c.2593T>C	NP_001374040.1:p.Ser865Pro
NM_001387113.3:c.2551T>C	NP_001374042.1:p.Ser851Pro
NM_001395893.1:c.2281T>C	NP_001382822.1:p.Ser761Pro
NM_001395894.1:c.2593T>C	NP_001382823.1:p.Ser865Pro
NM_001395897.1:c.2590T>C	NP_001382826.1:p.Ser864Pro
NM_001395899.1:c.2398T>C	NP_001382828.1:p.Ser800Pro
NM_001395900.1:c.2353T>C	NP_001382829.1:p.Ser785Pro
NM_001395901.1:c.2311T>C	NP_001382830.1:p.Ser771Pro
NM_001395902.1:c.2281T>C	NP_001382831.1:p.Ser761Pro
NM_016218.6:c.2551T>C MANE Select	NP_057302.1:p.Ser851Pro
NR_144315.3:n.2416T>C
NR_170559.3:n.2405T>C
NR_170560.3:n.2637T>C