Canonical Allele Identifier: CA360154812

Gene: POLK

Linked Data

• gnomAD v4: 5-75597751-C-G
• MyVariant Identifiers: chr5:g.74893576C>G (hg19) ; chr5:g.75597751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597751C>G , CM000667.2:g.75597751C>G	GRCh38
NC_000005.9:g.74893576C>G , CM000667.1:g.74893576C>G	GRCh37
NC_000005.8:g.74929332C>G	NCBI36
NG_051590.1:g.91002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2490C>G MANE Select	ENSP00000241436.4:p.Ser830Arg
ENST00000241436.8:c.2490C>G	ENSP00000241436.4:p.Ser830Arg
ENST00000502567.1:n.335C>G
ENST00000503479.6:c.*1013C>G	ENSP00000421997.2:n.*1013C>G
ENST00000504026.5:c.1361C>G	ENSP00000425075.1:p.Ala454Gly
ENST00000505069.1:n.70C>G
ENST00000505975.5:c.2604C>G	ENSP00000424859.1:n.2604C>G
ENST00000506928.5:n.2613C>G
ENST00000508526.5:c.1896C>G	ENSP00000426853.1:p.Ser632Arg
ENST00000509126.2:c.2318C>G	ENSP00000423532.1:n.2318C>G
ENST00000510815.6:c.*1013C>G	ENSP00000422094.2:n.*1013C>G
ENST00000511527.5:c.1475C>G	ENSP00000420997.1:n.1475C>G
ENST00000514141.5:c.*1109C>G	ENSP00000423526.1:n.*1109C>G
NM_016218.2:c.2490C>G	NP_057302.1:p.Ser830Arg
XM_005248534.3:c.2532C>G	XP_005248591.1:p.Ser844Arg
XM_006714652.2:c.1245C>G	XP_006714715.1:p.Ser415Arg
XM_011543463.1:c.2532C>G	XP_011541765.1:p.Ser844Arg
XM_011543464.1:c.2532C>G	XP_011541766.1:p.Ser844Arg
XM_011543465.1:c.2532C>G	XP_011541767.1:p.Ser844Arg
XM_011543466.1:c.2532C>G	XP_011541768.1:p.Ser844Arg
XM_011543467.1:c.2262C>G	XP_011541769.1:p.Ser754Arg
XR_241784.1:n.2498C>G
XR_948273.1:n.2682C>G
NM_001345921.1:c.2292C>G	NP_001332850.1:p.Ser764Arg
NM_001345922.1:c.2220C>G	NP_001332851.1:p.Ser740Arg
NM_016218.3:c.2490C>G	NP_057302.1:p.Ser830Arg
NR_144315.1:n.2496C>G
XM_005248534.5:c.2532C>G	XP_005248591.1:p.Ser844Arg
XM_006714652.4:c.1245C>G	XP_006714715.1:p.Ser415Arg
XM_011543463.3:c.2532C>G	XP_011541765.1:p.Ser844Arg
XM_011543464.3:c.2532C>G	XP_011541766.1:p.Ser844Arg
XM_011543467.3:c.2262C>G	XP_011541769.1:p.Ser754Arg
XM_017009559.2:c.2490C>G	XP_016865048.1:p.Ser830Arg
XM_017009560.2:c.2490C>G	XP_016865049.1:p.Ser830Arg
XM_017009561.2:c.2334C>G	XP_016865050.1:p.Ser778Arg
XM_017009563.2:c.2220C>G	XP_016865052.1:p.Ser740Arg
XR_001742105.2:n.2980C>G
XR_001742107.2:n.3064C>G
XR_001742108.2:n.2598C>G
XR_241784.3:n.3022C>G
XR_948273.3:n.2682C>G
NM_001345921.2:c.2292C>G	NP_001332850.1:p.Ser764Arg
NM_001345922.2:c.2220C>G	NP_001332851.1:p.Ser740Arg
NM_001387110.2:c.2481C>G	NP_001374039.1:p.Ser827Arg
NM_001387111.2:c.2532C>G	NP_001374040.1:p.Ser844Arg
NM_001387113.2:c.2490C>G	NP_001374042.1:p.Ser830Arg
NM_016218.5:c.2490C>G	NP_057302.1:p.Ser830Arg
NR_144315.2:n.2355C>G
NR_170559.2:n.2344C>G
NR_170560.2:n.2576C>G
NM_001345921.3:c.2292C>G	NP_001332850.1:p.Ser764Arg
NM_001345922.3:c.2220C>G	NP_001332851.1:p.Ser740Arg
NM_001387110.3:c.2481C>G	NP_001374039.1:p.Ser827Arg
NM_001387111.3:c.2532C>G	NP_001374040.1:p.Ser844Arg
NM_001387113.3:c.2490C>G	NP_001374042.1:p.Ser830Arg
NM_001395893.1:c.2220C>G	NP_001382822.1:p.Ser740Arg
NM_001395894.1:c.2532C>G	NP_001382823.1:p.Ser844Arg
NM_001395897.1:c.2529C>G	NP_001382826.1:p.Ser843Arg
NM_001395899.1:c.2337C>G	NP_001382828.1:p.Ser779Arg
NM_001395900.1:c.2292C>G	NP_001382829.1:p.Ser764Arg
NM_001395901.1:c.2250C>G	NP_001382830.1:p.Ser750Arg
NM_001395902.1:c.2220C>G	NP_001382831.1:p.Ser740Arg
NM_016218.6:c.2490C>G MANE Select	NP_057302.1:p.Ser830Arg
NR_144315.3:n.2355C>G
NR_170559.3:n.2344C>G
NR_170560.3:n.2576C>G