Canonical Allele Identifier: CA444695598

Gene: POLK

Linked Data

• gnomAD v4: 5-75597988-C-T
• MyVariant Identifiers: chr5:g.74893813C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597988C>T , CM000667.2:g.75597988C>T	GRCh38
NC_000005.9:g.74893813C>T , CM000667.1:g.74893813C>T	GRCh37
NC_000005.8:g.74929569C>T	NCBI36
NG_051590.1:g.91239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2583C>T MANE Select	ENSP00000241436.4:p.Pro861=
ENST00000241436.8:c.2583C>T	ENSP00000241436.4:p.Pro861=
ENST00000502567.1:n.428C>T
ENST00000503479.6:c.*1106C>T	ENSP00000421997.2:n.*1106C>T
ENST00000504026.5:c.1454C>T	ENSP00000425075.1:n.1454C>T
ENST00000505069.1:n.307C>T
ENST00000505975.5:c.2697C>T	ENSP00000424859.1:n.2697C>T
ENST00000506928.5:n.2706C>T
ENST00000508526.5:c.1989C>T	ENSP00000426853.1:p.Pro663=
ENST00000509126.2:c.2411C>T	ENSP00000423532.1:n.2411C>T
ENST00000510815.6:c.*1106C>T	ENSP00000422094.2:n.*1106C>T
ENST00000511527.5:c.1568C>T	ENSP00000420997.1:n.1568C>T
ENST00000514141.5:c.*1202C>T	ENSP00000423526.1:n.*1202C>T
NM_016218.2:c.2583C>T	NP_057302.1:p.Pro861=
XM_005248534.3:c.2625C>T	XP_005248591.1:p.Pro875=
XM_006714652.2:c.1338C>T	XP_006714715.1:p.Pro446=
XM_011543463.1:c.2625C>T	XP_011541765.1:p.Pro875=
XM_011543464.1:c.2625C>T	XP_011541766.1:p.Pro875=
XM_011543465.1:c.2625C>T	XP_011541767.1:p.Pro875=
XM_011543466.1:c.2625C>T	XP_011541768.1:p.Pro875=
XM_011543467.1:c.2355C>T	XP_011541769.1:p.Pro785=
XR_241784.1:n.2591C>T
XR_948273.1:n.2775C>T
NM_001345921.1:c.2385C>T	NP_001332850.1:p.Pro795=
NM_001345922.1:c.2313C>T	NP_001332851.1:p.Pro771=
NM_016218.3:c.2583C>T	NP_057302.1:p.Pro861=
NR_144315.1:n.2589C>T
XM_005248534.5:c.2625C>T	XP_005248591.1:p.Pro875=
XM_006714652.4:c.1338C>T	XP_006714715.1:p.Pro446=
XM_011543463.3:c.2625C>T	XP_011541765.1:p.Pro875=
XM_011543464.3:c.2625C>T	XP_011541766.1:p.Pro875=
XM_011543467.3:c.2355C>T	XP_011541769.1:p.Pro785=
XM_017009559.2:c.2583C>T	XP_016865048.1:p.Pro861=
XM_017009560.2:c.2583C>T	XP_016865049.1:p.Pro861=
XM_017009561.2:c.2427C>T	XP_016865050.1:p.Pro809=
XM_017009563.2:c.2313C>T	XP_016865052.1:p.Pro771=
XR_001742105.2:n.3073C>T
XR_001742107.2:n.3157C>T
XR_001742108.2:n.2691C>T
XR_241784.3:n.3115C>T
XR_948273.3:n.2775C>T
NM_001345921.2:c.2385C>T	NP_001332850.1:p.Pro795=
NM_001345922.2:c.2313C>T	NP_001332851.1:p.Pro771=
NM_001387110.2:c.2574C>T	NP_001374039.1:p.Pro858=
NM_001387111.2:c.2625C>T	NP_001374040.1:p.Pro875=
NM_001387113.2:c.2583C>T	NP_001374042.1:p.Pro861=
NM_016218.5:c.2583C>T	NP_057302.1:p.Pro861=
NR_144315.2:n.2448C>T
NR_170559.2:n.2437C>T
NR_170560.2:n.2669C>T
NM_001345921.3:c.2385C>T	NP_001332850.1:p.Pro795=
NM_001345922.3:c.2313C>T	NP_001332851.1:p.Pro771=
NM_001387110.3:c.2574C>T	NP_001374039.1:p.Pro858=
NM_001387111.3:c.2625C>T	NP_001374040.1:p.Pro875=
NM_001387113.3:c.2583C>T	NP_001374042.1:p.Pro861=
NM_001395893.1:c.2313C>T	NP_001382822.1:p.Pro771=
NM_001395894.1:c.2625C>T	NP_001382823.1:p.Pro875=
NM_001395897.1:c.2622C>T	NP_001382826.1:p.Pro874=
NM_001395899.1:c.2430C>T	NP_001382828.1:p.Pro810=
NM_001395900.1:c.2385C>T	NP_001382829.1:p.Pro795=
NM_001395901.1:c.2343C>T	NP_001382830.1:p.Pro781=
NM_001395902.1:c.2313C>T	NP_001382831.1:p.Pro771=
NM_016218.6:c.2583C>T MANE Select	NP_057302.1:p.Pro861=
NR_144315.3:n.2448C>T
NR_170559.3:n.2437C>T
NR_170560.3:n.2669C>T