Canonical Allele Identifier: CA444695539

Gene: POLK

Linked Data

• gnomAD v4: 5-75597781-A-G
• MyVariant Identifiers: chr5:g.74893606A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597781A>G , CM000667.2:g.75597781A>G	GRCh38
NC_000005.9:g.74893606A>G , CM000667.1:g.74893606A>G	GRCh37
NC_000005.8:g.74929362A>G	NCBI36
NG_051590.1:g.91032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2520A>G MANE Select	ENSP00000241436.4:p.Arg840=
ENST00000241436.8:c.2520A>G	ENSP00000241436.4:p.Arg840=
ENST00000502567.1:n.365A>G
ENST00000503479.6:c.*1043A>G	ENSP00000421997.2:n.*1043A>G
ENST00000504026.5:c.1391A>G	ENSP00000425075.1:n.1391A>G
ENST00000505069.1:n.100A>G
ENST00000505975.5:c.2634A>G	ENSP00000424859.1:n.2634A>G
ENST00000506928.5:n.2643A>G
ENST00000508526.5:c.1926A>G	ENSP00000426853.1:p.Arg642=
ENST00000509126.2:c.2348A>G	ENSP00000423532.1:n.2348A>G
ENST00000510815.6:c.*1043A>G	ENSP00000422094.2:n.*1043A>G
ENST00000511527.5:c.1505A>G	ENSP00000420997.1:n.1505A>G
ENST00000514141.5:c.*1139A>G	ENSP00000423526.1:n.*1139A>G
NM_016218.2:c.2520A>G	NP_057302.1:p.Arg840=
XM_005248534.3:c.2562A>G	XP_005248591.1:p.Arg854=
XM_006714652.2:c.1275A>G	XP_006714715.1:p.Arg425=
XM_011543463.1:c.2562A>G	XP_011541765.1:p.Arg854=
XM_011543464.1:c.2562A>G	XP_011541766.1:p.Arg854=
XM_011543465.1:c.2562A>G	XP_011541767.1:p.Arg854=
XM_011543466.1:c.2562A>G	XP_011541768.1:p.Arg854=
XM_011543467.1:c.2292A>G	XP_011541769.1:p.Arg764=
XR_241784.1:n.2528A>G
XR_948273.1:n.2712A>G
NM_001345921.1:c.2322A>G	NP_001332850.1:p.Arg774=
NM_001345922.1:c.2250A>G	NP_001332851.1:p.Arg750=
NM_016218.3:c.2520A>G	NP_057302.1:p.Arg840=
NR_144315.1:n.2526A>G
XM_005248534.5:c.2562A>G	XP_005248591.1:p.Arg854=
XM_006714652.4:c.1275A>G	XP_006714715.1:p.Arg425=
XM_011543463.3:c.2562A>G	XP_011541765.1:p.Arg854=
XM_011543464.3:c.2562A>G	XP_011541766.1:p.Arg854=
XM_011543467.3:c.2292A>G	XP_011541769.1:p.Arg764=
XM_017009559.2:c.2520A>G	XP_016865048.1:p.Arg840=
XM_017009560.2:c.2520A>G	XP_016865049.1:p.Arg840=
XM_017009561.2:c.2364A>G	XP_016865050.1:p.Arg788=
XM_017009563.2:c.2250A>G	XP_016865052.1:p.Arg750=
XR_001742105.2:n.3010A>G
XR_001742107.2:n.3094A>G
XR_001742108.2:n.2628A>G
XR_241784.3:n.3052A>G
XR_948273.3:n.2712A>G
NM_001345921.2:c.2322A>G	NP_001332850.1:p.Arg774=
NM_001345922.2:c.2250A>G	NP_001332851.1:p.Arg750=
NM_001387110.2:c.2511A>G	NP_001374039.1:p.Arg837=
NM_001387111.2:c.2562A>G	NP_001374040.1:p.Arg854=
NM_001387113.2:c.2520A>G	NP_001374042.1:p.Arg840=
NM_016218.5:c.2520A>G	NP_057302.1:p.Arg840=
NR_144315.2:n.2385A>G
NR_170559.2:n.2374A>G
NR_170560.2:n.2606A>G
NM_001345921.3:c.2322A>G	NP_001332850.1:p.Arg774=
NM_001345922.3:c.2250A>G	NP_001332851.1:p.Arg750=
NM_001387110.3:c.2511A>G	NP_001374039.1:p.Arg837=
NM_001387111.3:c.2562A>G	NP_001374040.1:p.Arg854=
NM_001387113.3:c.2520A>G	NP_001374042.1:p.Arg840=
NM_001395893.1:c.2250A>G	NP_001382822.1:p.Arg750=
NM_001395894.1:c.2562A>G	NP_001382823.1:p.Arg854=
NM_001395897.1:c.2559A>G	NP_001382826.1:p.Arg853=
NM_001395899.1:c.2367A>G	NP_001382828.1:p.Arg789=
NM_001395900.1:c.2322A>G	NP_001382829.1:p.Arg774=
NM_001395901.1:c.2280A>G	NP_001382830.1:p.Arg760=
NM_001395902.1:c.2250A>G	NP_001382831.1:p.Arg750=
NM_016218.6:c.2520A>G MANE Select	NP_057302.1:p.Arg840=
NR_144315.3:n.2385A>G
NR_170559.3:n.2374A>G
NR_170560.3:n.2606A>G