Canonical Allele Identifier: CA360154827

Gene: POLK

Linked Data

• dbSNP Id: rs5744716
• gnomAD v4: 5-75597756-G-T
• MyVariant Identifiers: chr5:g.74893581G>T (hg19) ; chr5:g.75597756G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597756G>T , CM000667.2:g.75597756G>T	GRCh38
NC_000005.9:g.74893581G>T , CM000667.1:g.74893581G>T	GRCh37
NC_000005.8:g.74929337G>T	NCBI36
NG_051590.1:g.91007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2495G>T MANE Select	ENSP00000241436.4:p.Ser832Ile
ENST00000241436.8:c.2495G>T	ENSP00000241436.4:p.Ser832Ile
ENST00000502567.1:n.340G>T
ENST00000503479.6:c.*1018G>T	ENSP00000421997.2:n.*1018G>T
ENST00000504026.5:c.1366G>T	ENSP00000425075.1:p.Val456Leu
ENST00000505069.1:n.75G>T
ENST00000505975.5:c.2609G>T	ENSP00000424859.1:n.2609G>T
ENST00000506928.5:n.2618G>T
ENST00000508526.5:c.1901G>T	ENSP00000426853.1:p.Ser634Ile
ENST00000509126.2:c.2323G>T	ENSP00000423532.1:n.2323G>T
ENST00000510815.6:c.*1018G>T	ENSP00000422094.2:n.*1018G>T
ENST00000511527.5:c.1480G>T	ENSP00000420997.1:n.1480G>T
ENST00000514141.5:c.*1114G>T	ENSP00000423526.1:n.*1114G>T
NM_016218.2:c.2495G>T	NP_057302.1:p.Ser832Ile
XM_005248534.3:c.2537G>T	XP_005248591.1:p.Ser846Ile
XM_006714652.2:c.1250G>T	XP_006714715.1:p.Ser417Ile
XM_011543463.1:c.2537G>T	XP_011541765.1:p.Ser846Ile
XM_011543464.1:c.2537G>T	XP_011541766.1:p.Ser846Ile
XM_011543465.1:c.2537G>T	XP_011541767.1:p.Ser846Ile
XM_011543466.1:c.2537G>T	XP_011541768.1:p.Ser846Ile
XM_011543467.1:c.2267G>T	XP_011541769.1:p.Ser756Ile
XR_241784.1:n.2503G>T
XR_948273.1:n.2687G>T
NM_001345921.1:c.2297G>T	NP_001332850.1:p.Ser766Ile
NM_001345922.1:c.2225G>T	NP_001332851.1:p.Ser742Ile
NM_016218.3:c.2495G>T	NP_057302.1:p.Ser832Ile
NR_144315.1:n.2501G>T
XM_005248534.5:c.2537G>T	XP_005248591.1:p.Ser846Ile
XM_006714652.4:c.1250G>T	XP_006714715.1:p.Ser417Ile
XM_011543463.3:c.2537G>T	XP_011541765.1:p.Ser846Ile
XM_011543464.3:c.2537G>T	XP_011541766.1:p.Ser846Ile
XM_011543467.3:c.2267G>T	XP_011541769.1:p.Ser756Ile
XM_017009559.2:c.2495G>T	XP_016865048.1:p.Ser832Ile
XM_017009560.2:c.2495G>T	XP_016865049.1:p.Ser832Ile
XM_017009561.2:c.2339G>T	XP_016865050.1:p.Ser780Ile
XM_017009563.2:c.2225G>T	XP_016865052.1:p.Ser742Ile
XR_001742105.2:n.2985G>T
XR_001742107.2:n.3069G>T
XR_001742108.2:n.2603G>T
XR_241784.3:n.3027G>T
XR_948273.3:n.2687G>T
NM_001345921.2:c.2297G>T	NP_001332850.1:p.Ser766Ile
NM_001345922.2:c.2225G>T	NP_001332851.1:p.Ser742Ile
NM_001387110.2:c.2486G>T	NP_001374039.1:p.Ser829Ile
NM_001387111.2:c.2537G>T	NP_001374040.1:p.Ser846Ile
NM_001387113.2:c.2495G>T	NP_001374042.1:p.Ser832Ile
NM_016218.5:c.2495G>T	NP_057302.1:p.Ser832Ile
NR_144315.2:n.2360G>T
NR_170559.2:n.2349G>T
NR_170560.2:n.2581G>T
NM_001345921.3:c.2297G>T	NP_001332850.1:p.Ser766Ile
NM_001345922.3:c.2225G>T	NP_001332851.1:p.Ser742Ile
NM_001387110.3:c.2486G>T	NP_001374039.1:p.Ser829Ile
NM_001387111.3:c.2537G>T	NP_001374040.1:p.Ser846Ile
NM_001387113.3:c.2495G>T	NP_001374042.1:p.Ser832Ile
NM_001395893.1:c.2225G>T	NP_001382822.1:p.Ser742Ile
NM_001395894.1:c.2537G>T	NP_001382823.1:p.Ser846Ile
NM_001395897.1:c.2534G>T	NP_001382826.1:p.Ser845Ile
NM_001395899.1:c.2342G>T	NP_001382828.1:p.Ser781Ile
NM_001395900.1:c.2297G>T	NP_001382829.1:p.Ser766Ile
NM_001395901.1:c.2255G>T	NP_001382830.1:p.Ser752Ile
NM_001395902.1:c.2225G>T	NP_001382831.1:p.Ser742Ile
NM_016218.6:c.2495G>T MANE Select	NP_057302.1:p.Ser832Ile
NR_144315.3:n.2360G>T
NR_170559.3:n.2349G>T
NR_170560.3:n.2581G>T