Canonical Allele Identifier: CA120966430

Gene: POLK

Linked Data

• dbSNP Id: rs1006205943
• gnomAD v4: 5-75597984-A-G
• MyVariant Identifiers: chr5:g.74893809A>G (hg19) ; chr5:g.75597984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597984A>G , CM000667.2:g.75597984A>G	GRCh38
NC_000005.9:g.74893809A>G , CM000667.1:g.74893809A>G	GRCh37
NC_000005.8:g.74929565A>G	NCBI36
NG_051590.1:g.91235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2579A>G MANE Select	ENSP00000241436.4:p.Asn860Ser
ENST00000241436.8:c.2579A>G	ENSP00000241436.4:p.Asn860Ser
ENST00000502567.1:n.424A>G
ENST00000503479.6:c.*1102A>G	ENSP00000421997.2:n.*1102A>G
ENST00000504026.5:c.1450A>G	ENSP00000425075.1:n.1450A>G
ENST00000505069.1:n.303A>G
ENST00000505975.5:c.2693A>G	ENSP00000424859.1:n.2693A>G
ENST00000506928.5:n.2702A>G
ENST00000508526.5:c.1985A>G	ENSP00000426853.1:p.Asn662Ser
ENST00000509126.2:c.2407A>G	ENSP00000423532.1:n.2407A>G
ENST00000510815.6:c.*1102A>G	ENSP00000422094.2:n.*1102A>G
ENST00000511527.5:c.1564A>G	ENSP00000420997.1:n.1564A>G
ENST00000514141.5:c.*1198A>G	ENSP00000423526.1:n.*1198A>G
NM_016218.2:c.2579A>G	NP_057302.1:p.Asn860Ser
XM_005248534.3:c.2621A>G	XP_005248591.1:p.Asn874Ser
XM_006714652.2:c.1334A>G	XP_006714715.1:p.Asn445Ser
XM_011543463.1:c.2621A>G	XP_011541765.1:p.Asn874Ser
XM_011543464.1:c.2621A>G	XP_011541766.1:p.Asn874Ser
XM_011543465.1:c.2621A>G	XP_011541767.1:p.Asn874Ser
XM_011543466.1:c.2621A>G	XP_011541768.1:p.Asn874Ser
XM_011543467.1:c.2351A>G	XP_011541769.1:p.Asn784Ser
XR_241784.1:n.2587A>G
XR_948273.1:n.2771A>G
NM_001345921.1:c.2381A>G	NP_001332850.1:p.Asn794Ser
NM_001345922.1:c.2309A>G	NP_001332851.1:p.Asn770Ser
NM_016218.3:c.2579A>G	NP_057302.1:p.Asn860Ser
NR_144315.1:n.2585A>G
XM_005248534.5:c.2621A>G	XP_005248591.1:p.Asn874Ser
XM_006714652.4:c.1334A>G	XP_006714715.1:p.Asn445Ser
XM_011543463.3:c.2621A>G	XP_011541765.1:p.Asn874Ser
XM_011543464.3:c.2621A>G	XP_011541766.1:p.Asn874Ser
XM_011543467.3:c.2351A>G	XP_011541769.1:p.Asn784Ser
XM_017009559.2:c.2579A>G	XP_016865048.1:p.Asn860Ser
XM_017009560.2:c.2579A>G	XP_016865049.1:p.Asn860Ser
XM_017009561.2:c.2423A>G	XP_016865050.1:p.Asn808Ser
XM_017009563.2:c.2309A>G	XP_016865052.1:p.Asn770Ser
XR_001742105.2:n.3069A>G
XR_001742107.2:n.3153A>G
XR_001742108.2:n.2687A>G
XR_241784.3:n.3111A>G
XR_948273.3:n.2771A>G
NM_001345921.2:c.2381A>G	NP_001332850.1:p.Asn794Ser
NM_001345922.2:c.2309A>G	NP_001332851.1:p.Asn770Ser
NM_001387110.2:c.2570A>G	NP_001374039.1:p.Asn857Ser
NM_001387111.2:c.2621A>G	NP_001374040.1:p.Asn874Ser
NM_001387113.2:c.2579A>G	NP_001374042.1:p.Asn860Ser
NM_016218.5:c.2579A>G	NP_057302.1:p.Asn860Ser
NR_144315.2:n.2444A>G
NR_170559.2:n.2433A>G
NR_170560.2:n.2665A>G
NM_001345921.3:c.2381A>G	NP_001332850.1:p.Asn794Ser
NM_001345922.3:c.2309A>G	NP_001332851.1:p.Asn770Ser
NM_001387110.3:c.2570A>G	NP_001374039.1:p.Asn857Ser
NM_001387111.3:c.2621A>G	NP_001374040.1:p.Asn874Ser
NM_001387113.3:c.2579A>G	NP_001374042.1:p.Asn860Ser
NM_001395893.1:c.2309A>G	NP_001382822.1:p.Asn770Ser
NM_001395894.1:c.2621A>G	NP_001382823.1:p.Asn874Ser
NM_001395897.1:c.2618A>G	NP_001382826.1:p.Asn873Ser
NM_001395899.1:c.2426A>G	NP_001382828.1:p.Asn809Ser
NM_001395900.1:c.2381A>G	NP_001382829.1:p.Asn794Ser
NM_001395901.1:c.2339A>G	NP_001382830.1:p.Asn780Ser
NM_001395902.1:c.2309A>G	NP_001382831.1:p.Asn770Ser
NM_016218.6:c.2579A>G MANE Select	NP_057302.1:p.Asn860Ser
NR_144315.3:n.2444A>G
NR_170559.3:n.2433A>G
NR_170560.3:n.2665A>G