Canonical Allele Identifier: CA360155109

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893842A>T (hg19) ; chr5:g.75598017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598017A>T , CM000667.2:g.75598017A>T	GRCh38
NC_000005.9:g.74893842A>T , CM000667.1:g.74893842A>T	GRCh37
NC_000005.8:g.74929598A>T	NCBI36
NG_051590.1:g.91268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2612A>T MANE Select	ENSP00000241436.4:p.Ter871Leu
ENST00000241436.8:c.2612A>T	ENSP00000241436.4:p.Ter871Leu
ENST00000503479.6:c.*1135A>T	ENSP00000421997.2:n.*1135A>T
ENST00000504026.5:c.1483A>T	ENSP00000425075.1:n.1483A>T
ENST00000505069.1:n.336A>T
ENST00000505975.5:c.2726A>T	ENSP00000424859.1:n.2726A>T
ENST00000506928.5:n.2735A>T
ENST00000508526.5:c.2018A>T	ENSP00000426853.1:p.Ter673Leu
ENST00000509126.2:c.2440A>T	ENSP00000423532.1:n.2440A>T
ENST00000510815.6:c.*1135A>T	ENSP00000422094.2:n.*1135A>T
ENST00000514141.5:c.*1231A>T	ENSP00000423526.1:n.*1231A>T
NM_016218.2:c.2612A>T	NP_057302.1:p.Ter871Leu
XM_005248534.3:c.2654A>T	XP_005248591.1:p.Ter885Leu
XM_006714652.2:c.1367A>T	XP_006714715.1:p.Ter456Leu
XM_011543463.1:c.2654A>T	XP_011541765.1:p.Ter885Leu
XM_011543464.1:c.2654A>T	XP_011541766.1:p.Ter885Leu
XM_011543465.1:c.2654A>T	XP_011541767.1:p.Ter885Leu
XM_011543466.1:c.2654A>T	XP_011541768.1:p.Ter885Leu
XM_011543467.1:c.2384A>T	XP_011541769.1:p.Ter795Leu
XR_241784.1:n.2620A>T
XR_948273.1:n.2804A>T
NM_001345921.1:c.2414A>T	NP_001332850.1:p.Ter805Leu
NM_001345922.1:c.2342A>T	NP_001332851.1:p.Ter781Leu
NM_016218.3:c.2612A>T	NP_057302.1:p.Ter871Leu
NR_144315.1:n.2618A>T
XM_005248534.5:c.2654A>T	XP_005248591.1:p.Ter885Leu
XM_006714652.4:c.1367A>T	XP_006714715.1:p.Ter456Leu
XM_011543463.3:c.2654A>T	XP_011541765.1:p.Ter885Leu
XM_011543464.3:c.2654A>T	XP_011541766.1:p.Ter885Leu
XM_011543467.3:c.2384A>T	XP_011541769.1:p.Ter795Leu
XM_017009559.2:c.2612A>T	XP_016865048.1:p.Ter871Leu
XM_017009560.2:c.2612A>T	XP_016865049.1:p.Ter871Leu
XM_017009561.2:c.2456A>T	XP_016865050.1:p.Ter819Leu
XM_017009563.2:c.2342A>T	XP_016865052.1:p.Ter781Leu
XR_001742105.2:n.3102A>T
XR_001742107.2:n.3186A>T
XR_001742108.2:n.2720A>T
XR_241784.3:n.3144A>T
XR_948273.3:n.2804A>T
NM_001345921.2:c.2414A>T	NP_001332850.1:p.Ter805Leu
NM_001345922.2:c.2342A>T	NP_001332851.1:p.Ter781Leu
NM_001387110.2:c.2603A>T	NP_001374039.1:p.Ter868Leu
NM_001387111.2:c.2654A>T	NP_001374040.1:p.Ter885Leu
NM_001387113.2:c.2612A>T	NP_001374042.1:p.Ter871Leu
NM_016218.5:c.2612A>T	NP_057302.1:p.Ter871Leu
NR_144315.2:n.2477A>T
NR_170559.2:n.2466A>T
NR_170560.2:n.2698A>T
NM_001345921.3:c.2414A>T	NP_001332850.1:p.Ter805Leu
NM_001345922.3:c.2342A>T	NP_001332851.1:p.Ter781Leu
NM_001387110.3:c.2603A>T	NP_001374039.1:p.Ter868Leu
NM_001387111.3:c.2654A>T	NP_001374040.1:p.Ter885Leu
NM_001387113.3:c.2612A>T	NP_001374042.1:p.Ter871Leu
NM_001395893.1:c.2342A>T	NP_001382822.1:p.Ter781Leu
NM_001395894.1:c.2654A>T	NP_001382823.1:p.Ter885Leu
NM_001395897.1:c.2651A>T	NP_001382826.1:p.Ter884Leu
NM_001395899.1:c.2459A>T	NP_001382828.1:p.Ter820Leu
NM_001395900.1:c.2414A>T	NP_001382829.1:p.Ter805Leu
NM_001395901.1:c.2372A>T	NP_001382830.1:p.Ter791Leu
NM_001395902.1:c.2342A>T	NP_001382831.1:p.Ter781Leu
NM_016218.6:c.2612A>T MANE Select	NP_057302.1:p.Ter871Leu
NR_144315.3:n.2477A>T
NR_170559.3:n.2466A>T
NR_170560.3:n.2698A>T