Canonical Allele Identifier: CA360154875

Gene: POLK

Linked Data

• gnomAD v4: 5-75597774-T-A
• MyVariant Identifiers: chr5:g.74893599T>A (hg19) ; chr5:g.75597774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597774T>A , CM000667.2:g.75597774T>A	GRCh38
NC_000005.9:g.74893599T>A , CM000667.1:g.74893599T>A	GRCh37
NC_000005.8:g.74929355T>A	NCBI36
NG_051590.1:g.91025T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2513T>A MANE Select	ENSP00000241436.4:p.Val838Glu
ENST00000241436.8:c.2513T>A	ENSP00000241436.4:p.Val838Glu
ENST00000502567.1:n.358T>A
ENST00000503479.6:c.*1036T>A	ENSP00000421997.2:n.*1036T>A
ENST00000504026.5:c.1384T>A	ENSP00000425075.1:p.Ter462Lys
ENST00000505069.1:n.93T>A
ENST00000505975.5:c.2627T>A	ENSP00000424859.1:n.2627T>A
ENST00000506928.5:n.2636T>A
ENST00000508526.5:c.1919T>A	ENSP00000426853.1:p.Val640Glu
ENST00000509126.2:c.2341T>A	ENSP00000423532.1:n.2341T>A
ENST00000510815.6:c.*1036T>A	ENSP00000422094.2:n.*1036T>A
ENST00000511527.5:c.1498T>A	ENSP00000420997.1:n.1498T>A
ENST00000514141.5:c.*1132T>A	ENSP00000423526.1:n.*1132T>A
NM_016218.2:c.2513T>A	NP_057302.1:p.Val838Glu
XM_005248534.3:c.2555T>A	XP_005248591.1:p.Val852Glu
XM_006714652.2:c.1268T>A	XP_006714715.1:p.Val423Glu
XM_011543463.1:c.2555T>A	XP_011541765.1:p.Val852Glu
XM_011543464.1:c.2555T>A	XP_011541766.1:p.Val852Glu
XM_011543465.1:c.2555T>A	XP_011541767.1:p.Val852Glu
XM_011543466.1:c.2555T>A	XP_011541768.1:p.Val852Glu
XM_011543467.1:c.2285T>A	XP_011541769.1:p.Val762Glu
XR_241784.1:n.2521T>A
XR_948273.1:n.2705T>A
NM_001345921.1:c.2315T>A	NP_001332850.1:p.Val772Glu
NM_001345922.1:c.2243T>A	NP_001332851.1:p.Val748Glu
NM_016218.3:c.2513T>A	NP_057302.1:p.Val838Glu
NR_144315.1:n.2519T>A
XM_005248534.5:c.2555T>A	XP_005248591.1:p.Val852Glu
XM_006714652.4:c.1268T>A	XP_006714715.1:p.Val423Glu
XM_011543463.3:c.2555T>A	XP_011541765.1:p.Val852Glu
XM_011543464.3:c.2555T>A	XP_011541766.1:p.Val852Glu
XM_011543467.3:c.2285T>A	XP_011541769.1:p.Val762Glu
XM_017009559.2:c.2513T>A	XP_016865048.1:p.Val838Glu
XM_017009560.2:c.2513T>A	XP_016865049.1:p.Val838Glu
XM_017009561.2:c.2357T>A	XP_016865050.1:p.Val786Glu
XM_017009563.2:c.2243T>A	XP_016865052.1:p.Val748Glu
XR_001742105.2:n.3003T>A
XR_001742107.2:n.3087T>A
XR_001742108.2:n.2621T>A
XR_241784.3:n.3045T>A
XR_948273.3:n.2705T>A
NM_001345921.2:c.2315T>A	NP_001332850.1:p.Val772Glu
NM_001345922.2:c.2243T>A	NP_001332851.1:p.Val748Glu
NM_001387110.2:c.2504T>A	NP_001374039.1:p.Val835Glu
NM_001387111.2:c.2555T>A	NP_001374040.1:p.Val852Glu
NM_001387113.2:c.2513T>A	NP_001374042.1:p.Val838Glu
NM_016218.5:c.2513T>A	NP_057302.1:p.Val838Glu
NR_144315.2:n.2378T>A
NR_170559.2:n.2367T>A
NR_170560.2:n.2599T>A
NM_001345921.3:c.2315T>A	NP_001332850.1:p.Val772Glu
NM_001345922.3:c.2243T>A	NP_001332851.1:p.Val748Glu
NM_001387110.3:c.2504T>A	NP_001374039.1:p.Val835Glu
NM_001387111.3:c.2555T>A	NP_001374040.1:p.Val852Glu
NM_001387113.3:c.2513T>A	NP_001374042.1:p.Val838Glu
NM_001395893.1:c.2243T>A	NP_001382822.1:p.Val748Glu
NM_001395894.1:c.2555T>A	NP_001382823.1:p.Val852Glu
NM_001395897.1:c.2552T>A	NP_001382826.1:p.Val851Glu
NM_001395899.1:c.2360T>A	NP_001382828.1:p.Val787Glu
NM_001395900.1:c.2315T>A	NP_001382829.1:p.Val772Glu
NM_001395901.1:c.2273T>A	NP_001382830.1:p.Val758Glu
NM_001395902.1:c.2243T>A	NP_001382831.1:p.Val748Glu
NM_016218.6:c.2513T>A MANE Select	NP_057302.1:p.Val838Glu
NR_144315.3:n.2378T>A
NR_170559.3:n.2367T>A
NR_170560.3:n.2599T>A