Canonical Allele Identifier: CA360154857

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893591G>T (hg19) ; chr5:g.75597766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597766G>T , CM000667.2:g.75597766G>T	GRCh38
NC_000005.9:g.74893591G>T , CM000667.1:g.74893591G>T	GRCh37
NC_000005.8:g.74929347G>T	NCBI36
NG_051590.1:g.91017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2505G>T MANE Select	ENSP00000241436.4:p.Gln835His
ENST00000241436.8:c.2505G>T	ENSP00000241436.4:p.Gln835His
ENST00000502567.1:n.350G>T
ENST00000503479.6:c.*1028G>T	ENSP00000421997.2:n.*1028G>T
ENST00000504026.5:c.1376G>T	ENSP00000425075.1:p.Arg459Ile
ENST00000505069.1:n.85G>T
ENST00000505975.5:c.2619G>T	ENSP00000424859.1:n.2619G>T
ENST00000506928.5:n.2628G>T
ENST00000508526.5:c.1911G>T	ENSP00000426853.1:p.Gln637His
ENST00000509126.2:c.2333G>T	ENSP00000423532.1:n.2333G>T
ENST00000510815.6:c.*1028G>T	ENSP00000422094.2:n.*1028G>T
ENST00000511527.5:c.1490G>T	ENSP00000420997.1:n.1490G>T
ENST00000514141.5:c.*1124G>T	ENSP00000423526.1:n.*1124G>T
NM_016218.2:c.2505G>T	NP_057302.1:p.Gln835His
XM_005248534.3:c.2547G>T	XP_005248591.1:p.Gln849His
XM_006714652.2:c.1260G>T	XP_006714715.1:p.Gln420His
XM_011543463.1:c.2547G>T	XP_011541765.1:p.Gln849His
XM_011543464.1:c.2547G>T	XP_011541766.1:p.Gln849His
XM_011543465.1:c.2547G>T	XP_011541767.1:p.Gln849His
XM_011543466.1:c.2547G>T	XP_011541768.1:p.Gln849His
XM_011543467.1:c.2277G>T	XP_011541769.1:p.Gln759His
XR_241784.1:n.2513G>T
XR_948273.1:n.2697G>T
NM_001345921.1:c.2307G>T	NP_001332850.1:p.Gln769His
NM_001345922.1:c.2235G>T	NP_001332851.1:p.Gln745His
NM_016218.3:c.2505G>T	NP_057302.1:p.Gln835His
NR_144315.1:n.2511G>T
XM_005248534.5:c.2547G>T	XP_005248591.1:p.Gln849His
XM_006714652.4:c.1260G>T	XP_006714715.1:p.Gln420His
XM_011543463.3:c.2547G>T	XP_011541765.1:p.Gln849His
XM_011543464.3:c.2547G>T	XP_011541766.1:p.Gln849His
XM_011543467.3:c.2277G>T	XP_011541769.1:p.Gln759His
XM_017009559.2:c.2505G>T	XP_016865048.1:p.Gln835His
XM_017009560.2:c.2505G>T	XP_016865049.1:p.Gln835His
XM_017009561.2:c.2349G>T	XP_016865050.1:p.Gln783His
XM_017009563.2:c.2235G>T	XP_016865052.1:p.Gln745His
XR_001742105.2:n.2995G>T
XR_001742107.2:n.3079G>T
XR_001742108.2:n.2613G>T
XR_241784.3:n.3037G>T
XR_948273.3:n.2697G>T
NM_001345921.2:c.2307G>T	NP_001332850.1:p.Gln769His
NM_001345922.2:c.2235G>T	NP_001332851.1:p.Gln745His
NM_001387110.2:c.2496G>T	NP_001374039.1:p.Gln832His
NM_001387111.2:c.2547G>T	NP_001374040.1:p.Gln849His
NM_001387113.2:c.2505G>T	NP_001374042.1:p.Gln835His
NM_016218.5:c.2505G>T	NP_057302.1:p.Gln835His
NR_144315.2:n.2370G>T
NR_170559.2:n.2359G>T
NR_170560.2:n.2591G>T
NM_001345921.3:c.2307G>T	NP_001332850.1:p.Gln769His
NM_001345922.3:c.2235G>T	NP_001332851.1:p.Gln745His
NM_001387110.3:c.2496G>T	NP_001374039.1:p.Gln832His
NM_001387111.3:c.2547G>T	NP_001374040.1:p.Gln849His
NM_001387113.3:c.2505G>T	NP_001374042.1:p.Gln835His
NM_001395893.1:c.2235G>T	NP_001382822.1:p.Gln745His
NM_001395894.1:c.2547G>T	NP_001382823.1:p.Gln849His
NM_001395897.1:c.2544G>T	NP_001382826.1:p.Gln848His
NM_001395899.1:c.2352G>T	NP_001382828.1:p.Gln784His
NM_001395900.1:c.2307G>T	NP_001382829.1:p.Gln769His
NM_001395901.1:c.2265G>T	NP_001382830.1:p.Gln755His
NM_001395902.1:c.2235G>T	NP_001382831.1:p.Gln745His
NM_016218.6:c.2505G>T MANE Select	NP_057302.1:p.Gln835His
NR_144315.3:n.2370G>T
NR_170559.3:n.2359G>T
NR_170560.3:n.2591G>T