Canonical Allele Identifier: CA360155111

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893843A>T (hg19) ; chr5:g.75598018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598018A>T , CM000667.2:g.75598018A>T	GRCh38
NC_000005.9:g.74893843A>T , CM000667.1:g.74893843A>T	GRCh37
NC_000005.8:g.74929599A>T	NCBI36
NG_051590.1:g.91269A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2613A>T MANE Select	ENSP00000241436.4:p.Ter871Tyr
ENST00000241436.8:c.2613A>T	ENSP00000241436.4:p.Ter871Tyr
ENST00000503479.6:c.*1136A>T	ENSP00000421997.2:n.*1136A>T
ENST00000504026.5:c.1484A>T	ENSP00000425075.1:n.1484A>T
ENST00000505069.1:n.337A>T
ENST00000505975.5:c.2727A>T	ENSP00000424859.1:n.2727A>T
ENST00000506928.5:n.2736A>T
ENST00000508526.5:c.2019A>T	ENSP00000426853.1:p.Ter673Tyr
ENST00000509126.2:c.2441A>T	ENSP00000423532.1:n.2441A>T
ENST00000510815.6:c.*1136A>T	ENSP00000422094.2:n.*1136A>T
ENST00000514141.5:c.*1232A>T	ENSP00000423526.1:n.*1232A>T
NM_016218.2:c.2613A>T	NP_057302.1:p.Ter871Tyr
XM_005248534.3:c.2655A>T	XP_005248591.1:p.Ter885Tyr
XM_006714652.2:c.1368A>T	XP_006714715.1:p.Ter456Tyr
XM_011543463.1:c.2655A>T	XP_011541765.1:p.Ter885Tyr
XM_011543464.1:c.2655A>T	XP_011541766.1:p.Ter885Tyr
XM_011543465.1:c.2655A>T	XP_011541767.1:p.Ter885Tyr
XM_011543466.1:c.2655A>T	XP_011541768.1:p.Ter885Tyr
XM_011543467.1:c.2385A>T	XP_011541769.1:p.Ter795Tyr
XR_241784.1:n.2621A>T
XR_948273.1:n.2805A>T
NM_001345921.1:c.2415A>T	NP_001332850.1:p.Ter805Tyr
NM_001345922.1:c.2343A>T	NP_001332851.1:p.Ter781Tyr
NM_016218.3:c.2613A>T	NP_057302.1:p.Ter871Tyr
NR_144315.1:n.2619A>T
XM_005248534.5:c.2655A>T	XP_005248591.1:p.Ter885Tyr
XM_006714652.4:c.1368A>T	XP_006714715.1:p.Ter456Tyr
XM_011543463.3:c.2655A>T	XP_011541765.1:p.Ter885Tyr
XM_011543464.3:c.2655A>T	XP_011541766.1:p.Ter885Tyr
XM_011543467.3:c.2385A>T	XP_011541769.1:p.Ter795Tyr
XM_017009559.2:c.2613A>T	XP_016865048.1:p.Ter871Tyr
XM_017009560.2:c.2613A>T	XP_016865049.1:p.Ter871Tyr
XM_017009561.2:c.2457A>T	XP_016865050.1:p.Ter819Tyr
XM_017009563.2:c.2343A>T	XP_016865052.1:p.Ter781Tyr
XR_001742105.2:n.3103A>T
XR_001742107.2:n.3187A>T
XR_001742108.2:n.2721A>T
XR_241784.3:n.3145A>T
XR_948273.3:n.2805A>T
NM_001345921.2:c.2415A>T	NP_001332850.1:p.Ter805Tyr
NM_001345922.2:c.2343A>T	NP_001332851.1:p.Ter781Tyr
NM_001387110.2:c.2604A>T	NP_001374039.1:p.Ter868Tyr
NM_001387111.2:c.2655A>T	NP_001374040.1:p.Ter885Tyr
NM_001387113.2:c.2613A>T	NP_001374042.1:p.Ter871Tyr
NM_016218.5:c.2613A>T	NP_057302.1:p.Ter871Tyr
NR_144315.2:n.2478A>T
NR_170559.2:n.2467A>T
NR_170560.2:n.2699A>T
NM_001345921.3:c.2415A>T	NP_001332850.1:p.Ter805Tyr
NM_001345922.3:c.2343A>T	NP_001332851.1:p.Ter781Tyr
NM_001387110.3:c.2604A>T	NP_001374039.1:p.Ter868Tyr
NM_001387111.3:c.2655A>T	NP_001374040.1:p.Ter885Tyr
NM_001387113.3:c.2613A>T	NP_001374042.1:p.Ter871Tyr
NM_001395893.1:c.2343A>T	NP_001382822.1:p.Ter781Tyr
NM_001395894.1:c.2655A>T	NP_001382823.1:p.Ter885Tyr
NM_001395897.1:c.2652A>T	NP_001382826.1:p.Ter884Tyr
NM_001395899.1:c.2460A>T	NP_001382828.1:p.Ter820Tyr
NM_001395900.1:c.2415A>T	NP_001382829.1:p.Ter805Tyr
NM_001395901.1:c.2373A>T	NP_001382830.1:p.Ter791Tyr
NM_001395902.1:c.2343A>T	NP_001382831.1:p.Ter781Tyr
NM_016218.6:c.2613A>T MANE Select	NP_057302.1:p.Ter871Tyr
NR_144315.3:n.2478A>T
NR_170559.3:n.2467A>T
NR_170560.3:n.2699A>T