Canonical Allele Identifier: CA360154994

Gene: POLK

Linked Data

• gnomAD v4: 5-75597966-A-T
• MyVariant Identifiers: chr5:g.74893791A>T (hg19) ; chr5:g.75597966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597966A>T , CM000667.2:g.75597966A>T	GRCh38
NC_000005.9:g.74893791A>T , CM000667.1:g.74893791A>T	GRCh37
NC_000005.8:g.74929547A>T	NCBI36
NG_051590.1:g.91217A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2561A>T MANE Select	ENSP00000241436.4:p.Lys854Met
ENST00000241436.8:c.2561A>T	ENSP00000241436.4:p.Lys854Met
ENST00000502567.1:n.406A>T
ENST00000503479.6:c.*1084A>T	ENSP00000421997.2:n.*1084A>T
ENST00000504026.5:c.1432A>T	ENSP00000425075.1:n.1432A>T
ENST00000505069.1:n.285A>T
ENST00000505975.5:c.2675A>T	ENSP00000424859.1:n.2675A>T
ENST00000506928.5:n.2684A>T
ENST00000508526.5:c.1967A>T	ENSP00000426853.1:p.Lys656Met
ENST00000509126.2:c.2389A>T	ENSP00000423532.1:n.2389A>T
ENST00000510815.6:c.*1084A>T	ENSP00000422094.2:n.*1084A>T
ENST00000511527.5:c.1546A>T	ENSP00000420997.1:n.1546A>T
ENST00000514141.5:c.*1180A>T	ENSP00000423526.1:n.*1180A>T
NM_016218.2:c.2561A>T	NP_057302.1:p.Lys854Met
XM_005248534.3:c.2603A>T	XP_005248591.1:p.Lys868Met
XM_006714652.2:c.1316A>T	XP_006714715.1:p.Lys439Met
XM_011543463.1:c.2603A>T	XP_011541765.1:p.Lys868Met
XM_011543464.1:c.2603A>T	XP_011541766.1:p.Lys868Met
XM_011543465.1:c.2603A>T	XP_011541767.1:p.Lys868Met
XM_011543466.1:c.2603A>T	XP_011541768.1:p.Lys868Met
XM_011543467.1:c.2333A>T	XP_011541769.1:p.Lys778Met
XR_241784.1:n.2569A>T
XR_948273.1:n.2753A>T
NM_001345921.1:c.2363A>T	NP_001332850.1:p.Lys788Met
NM_001345922.1:c.2291A>T	NP_001332851.1:p.Lys764Met
NM_016218.3:c.2561A>T	NP_057302.1:p.Lys854Met
NR_144315.1:n.2567A>T
XM_005248534.5:c.2603A>T	XP_005248591.1:p.Lys868Met
XM_006714652.4:c.1316A>T	XP_006714715.1:p.Lys439Met
XM_011543463.3:c.2603A>T	XP_011541765.1:p.Lys868Met
XM_011543464.3:c.2603A>T	XP_011541766.1:p.Lys868Met
XM_011543467.3:c.2333A>T	XP_011541769.1:p.Lys778Met
XM_017009559.2:c.2561A>T	XP_016865048.1:p.Lys854Met
XM_017009560.2:c.2561A>T	XP_016865049.1:p.Lys854Met
XM_017009561.2:c.2405A>T	XP_016865050.1:p.Lys802Met
XM_017009563.2:c.2291A>T	XP_016865052.1:p.Lys764Met
XR_001742105.2:n.3051A>T
XR_001742107.2:n.3135A>T
XR_001742108.2:n.2669A>T
XR_241784.3:n.3093A>T
XR_948273.3:n.2753A>T
NM_001345921.2:c.2363A>T	NP_001332850.1:p.Lys788Met
NM_001345922.2:c.2291A>T	NP_001332851.1:p.Lys764Met
NM_001387110.2:c.2552A>T	NP_001374039.1:p.Lys851Met
NM_001387111.2:c.2603A>T	NP_001374040.1:p.Lys868Met
NM_001387113.2:c.2561A>T	NP_001374042.1:p.Lys854Met
NM_016218.5:c.2561A>T	NP_057302.1:p.Lys854Met
NR_144315.2:n.2426A>T
NR_170559.2:n.2415A>T
NR_170560.2:n.2647A>T
NM_001345921.3:c.2363A>T	NP_001332850.1:p.Lys788Met
NM_001345922.3:c.2291A>T	NP_001332851.1:p.Lys764Met
NM_001387110.3:c.2552A>T	NP_001374039.1:p.Lys851Met
NM_001387111.3:c.2603A>T	NP_001374040.1:p.Lys868Met
NM_001387113.3:c.2561A>T	NP_001374042.1:p.Lys854Met
NM_001395893.1:c.2291A>T	NP_001382822.1:p.Lys764Met
NM_001395894.1:c.2603A>T	NP_001382823.1:p.Lys868Met
NM_001395897.1:c.2600A>T	NP_001382826.1:p.Lys867Met
NM_001395899.1:c.2408A>T	NP_001382828.1:p.Lys803Met
NM_001395900.1:c.2363A>T	NP_001382829.1:p.Lys788Met
NM_001395901.1:c.2321A>T	NP_001382830.1:p.Lys774Met
NM_001395902.1:c.2291A>T	NP_001382831.1:p.Lys764Met
NM_016218.6:c.2561A>T MANE Select	NP_057302.1:p.Lys854Met
NR_144315.3:n.2426A>T
NR_170559.3:n.2415A>T
NR_170560.3:n.2647A>T