Canonical Allele Identifier: CA211144

Gene: POLK

Linked Data

• ClinVar Variation Id: 218235
• ClinVar RCV Id: RCV000170563
• dbSNP Id: rs1554064740
• MyVariant Identifiers: chr5:g.74893828T>G (hg19) ; chr5:g.75598003T>G (hg38)
• PubMed: PMID:26046662

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598003T>G , CM000667.2:g.75598003T>G	GRCh38
NC_000005.9:g.74893828T>G , CM000667.1:g.74893828T>G	GRCh37
NC_000005.8:g.74929584T>G	NCBI36
NG_051590.1:g.91254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2598T>G MANE Select	ENSP00000241436.4:p.Asp866Glu
ENST00000241436.8:c.2598T>G	ENSP00000241436.4:p.Asp866Glu
ENST00000503479.6:c.*1121T>G	ENSP00000421997.2:n.*1121T>G
ENST00000504026.5:c.1469T>G	ENSP00000425075.1:n.1469T>G
ENST00000505069.1:n.322T>G
ENST00000505975.5:c.2712T>G	ENSP00000424859.1:n.2712T>G
ENST00000506928.5:n.2721T>G
ENST00000508526.5:c.2004T>G	ENSP00000426853.1:p.Asp668Glu
ENST00000509126.2:c.2426T>G	ENSP00000423532.1:n.2426T>G
ENST00000510815.6:c.*1121T>G	ENSP00000422094.2:n.*1121T>G
ENST00000511527.5:c.1583T>G	ENSP00000420997.1:n.1583T>G
ENST00000514141.5:c.*1217T>G	ENSP00000423526.1:n.*1217T>G
NM_016218.2:c.2598T>G	NP_057302.1:p.Asp866Glu
XM_005248534.3:c.2640T>G	XP_005248591.1:p.Asp880Glu
XM_006714652.2:c.1353T>G	XP_006714715.1:p.Asp451Glu
XM_011543463.1:c.2640T>G	XP_011541765.1:p.Asp880Glu
XM_011543464.1:c.2640T>G	XP_011541766.1:p.Asp880Glu
XM_011543465.1:c.2640T>G	XP_011541767.1:p.Asp880Glu
XM_011543466.1:c.2640T>G	XP_011541768.1:p.Asp880Glu
XM_011543467.1:c.2370T>G	XP_011541769.1:p.Asp790Glu
XR_241784.1:n.2606T>G
XR_948273.1:n.2790T>G
NM_001345921.1:c.2400T>G	NP_001332850.1:p.Asp800Glu
NM_001345922.1:c.2328T>G	NP_001332851.1:p.Asp776Glu
NM_016218.3:c.2598T>G	NP_057302.1:p.Asp866Glu
NR_144315.1:n.2604T>G
XM_005248534.5:c.2640T>G	XP_005248591.1:p.Asp880Glu
XM_006714652.4:c.1353T>G	XP_006714715.1:p.Asp451Glu
XM_011543463.3:c.2640T>G	XP_011541765.1:p.Asp880Glu
XM_011543464.3:c.2640T>G	XP_011541766.1:p.Asp880Glu
XM_011543467.3:c.2370T>G	XP_011541769.1:p.Asp790Glu
XM_017009559.2:c.2598T>G	XP_016865048.1:p.Asp866Glu
XM_017009560.2:c.2598T>G	XP_016865049.1:p.Asp866Glu
XM_017009561.2:c.2442T>G	XP_016865050.1:p.Asp814Glu
XM_017009563.2:c.2328T>G	XP_016865052.1:p.Asp776Glu
XR_001742105.2:n.3088T>G
XR_001742107.2:n.3172T>G
XR_001742108.2:n.2706T>G
XR_241784.3:n.3130T>G
XR_948273.3:n.2790T>G
NM_001345921.2:c.2400T>G	NP_001332850.1:p.Asp800Glu
NM_001345922.2:c.2328T>G	NP_001332851.1:p.Asp776Glu
NM_001387110.2:c.2589T>G	NP_001374039.1:p.Asp863Glu
NM_001387111.2:c.2640T>G	NP_001374040.1:p.Asp880Glu
NM_001387113.2:c.2598T>G	NP_001374042.1:p.Asp866Glu
NM_016218.5:c.2598T>G	NP_057302.1:p.Asp866Glu
NR_144315.2:n.2463T>G
NR_170559.2:n.2452T>G
NR_170560.2:n.2684T>G
NM_001345921.3:c.2400T>G	NP_001332850.1:p.Asp800Glu
NM_001345922.3:c.2328T>G	NP_001332851.1:p.Asp776Glu
NM_001387110.3:c.2589T>G	NP_001374039.1:p.Asp863Glu
NM_001387111.3:c.2640T>G	NP_001374040.1:p.Asp880Glu
NM_001387113.3:c.2598T>G	NP_001374042.1:p.Asp866Glu
NM_001395893.1:c.2328T>G	NP_001382822.1:p.Asp776Glu
NM_001395894.1:c.2640T>G	NP_001382823.1:p.Asp880Glu
NM_001395897.1:c.2637T>G	NP_001382826.1:p.Asp879Glu
NM_001395899.1:c.2445T>G	NP_001382828.1:p.Asp815Glu
NM_001395900.1:c.2400T>G	NP_001382829.1:p.Asp800Glu
NM_001395901.1:c.2358T>G	NP_001382830.1:p.Asp786Glu
NM_001395902.1:c.2328T>G	NP_001382831.1:p.Asp776Glu
NM_016218.6:c.2598T>G MANE Select	NP_057302.1:p.Asp866Glu
NR_144315.3:n.2463T>G
NR_170559.3:n.2452T>G
NR_170560.3:n.2684T>G