Canonical Allele Identifier: CA360154814

Gene: POLK

Linked Data

• gnomAD v4: 5-75597752-T-C
• MyVariant Identifiers: chr5:g.74893577T>C (hg19) ; chr5:g.75597752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597752T>C , CM000667.2:g.75597752T>C	GRCh38
NC_000005.9:g.74893577T>C , CM000667.1:g.74893577T>C	GRCh37
NC_000005.8:g.74929333T>C	NCBI36
NG_051590.1:g.91003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2491T>C MANE Select	ENSP00000241436.4:p.Ser831Pro
ENST00000241436.8:c.2491T>C	ENSP00000241436.4:p.Ser831Pro
ENST00000502567.1:n.336T>C
ENST00000503479.6:c.*1014T>C	ENSP00000421997.2:n.*1014T>C
ENST00000504026.5:c.1362T>C	ENSP00000425075.1:p.Ala454=
ENST00000505069.1:n.71T>C
ENST00000505975.5:c.2605T>C	ENSP00000424859.1:n.2605T>C
ENST00000506928.5:n.2614T>C
ENST00000508526.5:c.1897T>C	ENSP00000426853.1:p.Ser633Pro
ENST00000509126.2:c.2319T>C	ENSP00000423532.1:n.2319T>C
ENST00000510815.6:c.*1014T>C	ENSP00000422094.2:n.*1014T>C
ENST00000511527.5:c.1476T>C	ENSP00000420997.1:n.1476T>C
ENST00000514141.5:c.*1110T>C	ENSP00000423526.1:n.*1110T>C
NM_016218.2:c.2491T>C	NP_057302.1:p.Ser831Pro
XM_005248534.3:c.2533T>C	XP_005248591.1:p.Ser845Pro
XM_006714652.2:c.1246T>C	XP_006714715.1:p.Ser416Pro
XM_011543463.1:c.2533T>C	XP_011541765.1:p.Ser845Pro
XM_011543464.1:c.2533T>C	XP_011541766.1:p.Ser845Pro
XM_011543465.1:c.2533T>C	XP_011541767.1:p.Ser845Pro
XM_011543466.1:c.2533T>C	XP_011541768.1:p.Ser845Pro
XM_011543467.1:c.2263T>C	XP_011541769.1:p.Ser755Pro
XR_241784.1:n.2499T>C
XR_948273.1:n.2683T>C
NM_001345921.1:c.2293T>C	NP_001332850.1:p.Ser765Pro
NM_001345922.1:c.2221T>C	NP_001332851.1:p.Ser741Pro
NM_016218.3:c.2491T>C	NP_057302.1:p.Ser831Pro
NR_144315.1:n.2497T>C
XM_005248534.5:c.2533T>C	XP_005248591.1:p.Ser845Pro
XM_006714652.4:c.1246T>C	XP_006714715.1:p.Ser416Pro
XM_011543463.3:c.2533T>C	XP_011541765.1:p.Ser845Pro
XM_011543464.3:c.2533T>C	XP_011541766.1:p.Ser845Pro
XM_011543467.3:c.2263T>C	XP_011541769.1:p.Ser755Pro
XM_017009559.2:c.2491T>C	XP_016865048.1:p.Ser831Pro
XM_017009560.2:c.2491T>C	XP_016865049.1:p.Ser831Pro
XM_017009561.2:c.2335T>C	XP_016865050.1:p.Ser779Pro
XM_017009563.2:c.2221T>C	XP_016865052.1:p.Ser741Pro
XR_001742105.2:n.2981T>C
XR_001742107.2:n.3065T>C
XR_001742108.2:n.2599T>C
XR_241784.3:n.3023T>C
XR_948273.3:n.2683T>C
NM_001345921.2:c.2293T>C	NP_001332850.1:p.Ser765Pro
NM_001345922.2:c.2221T>C	NP_001332851.1:p.Ser741Pro
NM_001387110.2:c.2482T>C	NP_001374039.1:p.Ser828Pro
NM_001387111.2:c.2533T>C	NP_001374040.1:p.Ser845Pro
NM_001387113.2:c.2491T>C	NP_001374042.1:p.Ser831Pro
NM_016218.5:c.2491T>C	NP_057302.1:p.Ser831Pro
NR_144315.2:n.2356T>C
NR_170559.2:n.2345T>C
NR_170560.2:n.2577T>C
NM_001345921.3:c.2293T>C	NP_001332850.1:p.Ser765Pro
NM_001345922.3:c.2221T>C	NP_001332851.1:p.Ser741Pro
NM_001387110.3:c.2482T>C	NP_001374039.1:p.Ser828Pro
NM_001387111.3:c.2533T>C	NP_001374040.1:p.Ser845Pro
NM_001387113.3:c.2491T>C	NP_001374042.1:p.Ser831Pro
NM_001395893.1:c.2221T>C	NP_001382822.1:p.Ser741Pro
NM_001395894.1:c.2533T>C	NP_001382823.1:p.Ser845Pro
NM_001395897.1:c.2530T>C	NP_001382826.1:p.Ser844Pro
NM_001395899.1:c.2338T>C	NP_001382828.1:p.Ser780Pro
NM_001395900.1:c.2293T>C	NP_001382829.1:p.Ser765Pro
NM_001395901.1:c.2251T>C	NP_001382830.1:p.Ser751Pro
NM_001395902.1:c.2221T>C	NP_001382831.1:p.Ser741Pro
NM_016218.6:c.2491T>C MANE Select	NP_057302.1:p.Ser831Pro
NR_144315.3:n.2356T>C
NR_170559.3:n.2345T>C
NR_170560.3:n.2577T>C