Canonical Allele Identifier: CA120966203

Gene: POLK

Linked Data

• dbSNP Id: rs764516904
• gnomAD v2: 5-74893572-G-A
• gnomAD v3: 5-75597747-G-A
• gnomAD v4: 5-75597747-G-A
• MyVariant Identifiers: chr5:g.74893572G>A (hg19) ; chr5:g.75597747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597747G>A , CM000667.2:g.75597747G>A	GRCh38
NC_000005.9:g.74893572G>A , CM000667.1:g.74893572G>A	GRCh37
NC_000005.8:g.74929328G>A	NCBI36
NG_051590.1:g.90998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2486G>A MANE Select	ENSP00000241436.4:p.Gly829Asp
ENST00000241436.8:c.2486G>A	ENSP00000241436.4:p.Gly829Asp
ENST00000502567.1:n.331G>A
ENST00000503479.6:c.*1009G>A	ENSP00000421997.2:n.*1009G>A
ENST00000504026.5:c.1357G>A	ENSP00000425075.1:p.Val453Ile
ENST00000505069.1:n.66G>A
ENST00000505975.5:c.2600G>A	ENSP00000424859.1:n.2600G>A
ENST00000506928.5:n.2609G>A
ENST00000508526.5:c.1892G>A	ENSP00000426853.1:p.Gly631Asp
ENST00000509126.2:c.2314G>A	ENSP00000423532.1:n.2314G>A
ENST00000510815.6:c.*1009G>A	ENSP00000422094.2:n.*1009G>A
ENST00000511527.5:c.1471G>A	ENSP00000420997.1:n.1471G>A
ENST00000514141.5:c.*1105G>A	ENSP00000423526.1:n.*1105G>A
NM_016218.2:c.2486G>A	NP_057302.1:p.Gly829Asp
XM_005248534.3:c.2528G>A	XP_005248591.1:p.Gly843Asp
XM_006714652.2:c.1241G>A	XP_006714715.1:p.Gly414Asp
XM_011543463.1:c.2528G>A	XP_011541765.1:p.Gly843Asp
XM_011543464.1:c.2528G>A	XP_011541766.1:p.Gly843Asp
XM_011543465.1:c.2528G>A	XP_011541767.1:p.Gly843Asp
XM_011543466.1:c.2528G>A	XP_011541768.1:p.Gly843Asp
XM_011543467.1:c.2258G>A	XP_011541769.1:p.Gly753Asp
XR_241784.1:n.2494G>A
XR_948273.1:n.2678G>A
NM_001345921.1:c.2288G>A	NP_001332850.1:p.Gly763Asp
NM_001345922.1:c.2216G>A	NP_001332851.1:p.Gly739Asp
NM_016218.3:c.2486G>A	NP_057302.1:p.Gly829Asp
NR_144315.1:n.2492G>A
XM_005248534.5:c.2528G>A	XP_005248591.1:p.Gly843Asp
XM_006714652.4:c.1241G>A	XP_006714715.1:p.Gly414Asp
XM_011543463.3:c.2528G>A	XP_011541765.1:p.Gly843Asp
XM_011543464.3:c.2528G>A	XP_011541766.1:p.Gly843Asp
XM_011543467.3:c.2258G>A	XP_011541769.1:p.Gly753Asp
XM_017009559.2:c.2486G>A	XP_016865048.1:p.Gly829Asp
XM_017009560.2:c.2486G>A	XP_016865049.1:p.Gly829Asp
XM_017009561.2:c.2330G>A	XP_016865050.1:p.Gly777Asp
XM_017009563.2:c.2216G>A	XP_016865052.1:p.Gly739Asp
XR_001742105.2:n.2976G>A
XR_001742107.2:n.3060G>A
XR_001742108.2:n.2594G>A
XR_241784.3:n.3018G>A
XR_948273.3:n.2678G>A
NM_001345921.2:c.2288G>A	NP_001332850.1:p.Gly763Asp
NM_001345922.2:c.2216G>A	NP_001332851.1:p.Gly739Asp
NM_001387110.2:c.2477G>A	NP_001374039.1:p.Gly826Asp
NM_001387111.2:c.2528G>A	NP_001374040.1:p.Gly843Asp
NM_001387113.2:c.2486G>A	NP_001374042.1:p.Gly829Asp
NM_016218.5:c.2486G>A	NP_057302.1:p.Gly829Asp
NR_144315.2:n.2351G>A
NR_170559.2:n.2340G>A
NR_170560.2:n.2572G>A
NM_001345921.3:c.2288G>A	NP_001332850.1:p.Gly763Asp
NM_001345922.3:c.2216G>A	NP_001332851.1:p.Gly739Asp
NM_001387110.3:c.2477G>A	NP_001374039.1:p.Gly826Asp
NM_001387111.3:c.2528G>A	NP_001374040.1:p.Gly843Asp
NM_001387113.3:c.2486G>A	NP_001374042.1:p.Gly829Asp
NM_001395893.1:c.2216G>A	NP_001382822.1:p.Gly739Asp
NM_001395894.1:c.2528G>A	NP_001382823.1:p.Gly843Asp
NM_001395897.1:c.2525G>A	NP_001382826.1:p.Gly842Asp
NM_001395899.1:c.2333G>A	NP_001382828.1:p.Gly778Asp
NM_001395900.1:c.2288G>A	NP_001382829.1:p.Gly763Asp
NM_001395901.1:c.2246G>A	NP_001382830.1:p.Gly749Asp
NM_001395902.1:c.2216G>A	NP_001382831.1:p.Gly739Asp
NM_016218.6:c.2486G>A MANE Select	NP_057302.1:p.Gly829Asp
NR_144315.3:n.2351G>A
NR_170559.3:n.2340G>A
NR_170560.3:n.2572G>A