Canonical Allele Identifier: CA360154838

Gene: POLK

Linked Data

• gnomAD v4: 5-75597760-A-G
• MyVariant Identifiers: chr5:g.74893585A>G (hg19) ; chr5:g.75597760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597760A>G , CM000667.2:g.75597760A>G	GRCh38
NC_000005.9:g.74893585A>G , CM000667.1:g.74893585A>G	GRCh37
NC_000005.8:g.74929341A>G	NCBI36
NG_051590.1:g.91011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2499A>G MANE Select	ENSP00000241436.4:p.Gly833=
ENST00000241436.8:c.2499A>G	ENSP00000241436.4:p.Gly833=
ENST00000502567.1:n.344A>G
ENST00000503479.6:c.*1022A>G	ENSP00000421997.2:n.*1022A>G
ENST00000504026.5:c.1370A>G	ENSP00000425075.1:p.Glu457Gly
ENST00000505069.1:n.79A>G
ENST00000505975.5:c.2613A>G	ENSP00000424859.1:n.2613A>G
ENST00000506928.5:n.2622A>G
ENST00000508526.5:c.1905A>G	ENSP00000426853.1:p.Gly635=
ENST00000509126.2:c.2327A>G	ENSP00000423532.1:n.2327A>G
ENST00000510815.6:c.*1022A>G	ENSP00000422094.2:n.*1022A>G
ENST00000511527.5:c.1484A>G	ENSP00000420997.1:n.1484A>G
ENST00000514141.5:c.*1118A>G	ENSP00000423526.1:n.*1118A>G
NM_016218.2:c.2499A>G	NP_057302.1:p.Gly833=
XM_005248534.3:c.2541A>G	XP_005248591.1:p.Gly847=
XM_006714652.2:c.1254A>G	XP_006714715.1:p.Gly418=
XM_011543463.1:c.2541A>G	XP_011541765.1:p.Gly847=
XM_011543464.1:c.2541A>G	XP_011541766.1:p.Gly847=
XM_011543465.1:c.2541A>G	XP_011541767.1:p.Gly847=
XM_011543466.1:c.2541A>G	XP_011541768.1:p.Gly847=
XM_011543467.1:c.2271A>G	XP_011541769.1:p.Gly757=
XR_241784.1:n.2507A>G
XR_948273.1:n.2691A>G
NM_001345921.1:c.2301A>G	NP_001332850.1:p.Gly767=
NM_001345922.1:c.2229A>G	NP_001332851.1:p.Gly743=
NM_016218.3:c.2499A>G	NP_057302.1:p.Gly833=
NR_144315.1:n.2505A>G
XM_005248534.5:c.2541A>G	XP_005248591.1:p.Gly847=
XM_006714652.4:c.1254A>G	XP_006714715.1:p.Gly418=
XM_011543463.3:c.2541A>G	XP_011541765.1:p.Gly847=
XM_011543464.3:c.2541A>G	XP_011541766.1:p.Gly847=
XM_011543467.3:c.2271A>G	XP_011541769.1:p.Gly757=
XM_017009559.2:c.2499A>G	XP_016865048.1:p.Gly833=
XM_017009560.2:c.2499A>G	XP_016865049.1:p.Gly833=
XM_017009561.2:c.2343A>G	XP_016865050.1:p.Gly781=
XM_017009563.2:c.2229A>G	XP_016865052.1:p.Gly743=
XR_001742105.2:n.2989A>G
XR_001742107.2:n.3073A>G
XR_001742108.2:n.2607A>G
XR_241784.3:n.3031A>G
XR_948273.3:n.2691A>G
NM_001345921.2:c.2301A>G	NP_001332850.1:p.Gly767=
NM_001345922.2:c.2229A>G	NP_001332851.1:p.Gly743=
NM_001387110.2:c.2490A>G	NP_001374039.1:p.Gly830=
NM_001387111.2:c.2541A>G	NP_001374040.1:p.Gly847=
NM_001387113.2:c.2499A>G	NP_001374042.1:p.Gly833=
NM_016218.5:c.2499A>G	NP_057302.1:p.Gly833=
NR_144315.2:n.2364A>G
NR_170559.2:n.2353A>G
NR_170560.2:n.2585A>G
NM_001345921.3:c.2301A>G	NP_001332850.1:p.Gly767=
NM_001345922.3:c.2229A>G	NP_001332851.1:p.Gly743=
NM_001387110.3:c.2490A>G	NP_001374039.1:p.Gly830=
NM_001387111.3:c.2541A>G	NP_001374040.1:p.Gly847=
NM_001387113.3:c.2499A>G	NP_001374042.1:p.Gly833=
NM_001395893.1:c.2229A>G	NP_001382822.1:p.Gly743=
NM_001395894.1:c.2541A>G	NP_001382823.1:p.Gly847=
NM_001395897.1:c.2538A>G	NP_001382826.1:p.Gly846=
NM_001395899.1:c.2346A>G	NP_001382828.1:p.Gly782=
NM_001395900.1:c.2301A>G	NP_001382829.1:p.Gly767=
NM_001395901.1:c.2259A>G	NP_001382830.1:p.Gly753=
NM_001395902.1:c.2229A>G	NP_001382831.1:p.Gly743=
NM_016218.6:c.2499A>G MANE Select	NP_057302.1:p.Gly833=
NR_144315.3:n.2364A>G
NR_170559.3:n.2353A>G
NR_170560.3:n.2585A>G