Canonical Allele Identifier: CA360155061

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893820A>C (hg19) ; chr5:g.75597995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597995A>C , CM000667.2:g.75597995A>C	GRCh38
NC_000005.9:g.74893820A>C , CM000667.1:g.74893820A>C	GRCh37
NC_000005.8:g.74929576A>C	NCBI36
NG_051590.1:g.91246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2590A>C MANE Select	ENSP00000241436.4:p.Thr864Pro
ENST00000241436.8:c.2590A>C	ENSP00000241436.4:p.Thr864Pro
ENST00000503479.6:c.*1113A>C	ENSP00000421997.2:n.*1113A>C
ENST00000504026.5:c.1461A>C	ENSP00000425075.1:n.1461A>C
ENST00000505069.1:n.314A>C
ENST00000505975.5:c.2704A>C	ENSP00000424859.1:n.2704A>C
ENST00000506928.5:n.2713A>C
ENST00000508526.5:c.1996A>C	ENSP00000426853.1:p.Thr666Pro
ENST00000509126.2:c.2418A>C	ENSP00000423532.1:n.2418A>C
ENST00000510815.6:c.*1113A>C	ENSP00000422094.2:n.*1113A>C
ENST00000511527.5:c.1575A>C	ENSP00000420997.1:n.1575A>C
ENST00000514141.5:c.*1209A>C	ENSP00000423526.1:n.*1209A>C
NM_016218.2:c.2590A>C	NP_057302.1:p.Thr864Pro
XM_005248534.3:c.2632A>C	XP_005248591.1:p.Thr878Pro
XM_006714652.2:c.1345A>C	XP_006714715.1:p.Thr449Pro
XM_011543463.1:c.2632A>C	XP_011541765.1:p.Thr878Pro
XM_011543464.1:c.2632A>C	XP_011541766.1:p.Thr878Pro
XM_011543465.1:c.2632A>C	XP_011541767.1:p.Thr878Pro
XM_011543466.1:c.2632A>C	XP_011541768.1:p.Thr878Pro
XM_011543467.1:c.2362A>C	XP_011541769.1:p.Thr788Pro
XR_241784.1:n.2598A>C
XR_948273.1:n.2782A>C
NM_001345921.1:c.2392A>C	NP_001332850.1:p.Thr798Pro
NM_001345922.1:c.2320A>C	NP_001332851.1:p.Thr774Pro
NM_016218.3:c.2590A>C	NP_057302.1:p.Thr864Pro
NR_144315.1:n.2596A>C
XM_005248534.5:c.2632A>C	XP_005248591.1:p.Thr878Pro
XM_006714652.4:c.1345A>C	XP_006714715.1:p.Thr449Pro
XM_011543463.3:c.2632A>C	XP_011541765.1:p.Thr878Pro
XM_011543464.3:c.2632A>C	XP_011541766.1:p.Thr878Pro
XM_011543467.3:c.2362A>C	XP_011541769.1:p.Thr788Pro
XM_017009559.2:c.2590A>C	XP_016865048.1:p.Thr864Pro
XM_017009560.2:c.2590A>C	XP_016865049.1:p.Thr864Pro
XM_017009561.2:c.2434A>C	XP_016865050.1:p.Thr812Pro
XM_017009563.2:c.2320A>C	XP_016865052.1:p.Thr774Pro
XR_001742105.2:n.3080A>C
XR_001742107.2:n.3164A>C
XR_001742108.2:n.2698A>C
XR_241784.3:n.3122A>C
XR_948273.3:n.2782A>C
NM_001345921.2:c.2392A>C	NP_001332850.1:p.Thr798Pro
NM_001345922.2:c.2320A>C	NP_001332851.1:p.Thr774Pro
NM_001387110.2:c.2581A>C	NP_001374039.1:p.Thr861Pro
NM_001387111.2:c.2632A>C	NP_001374040.1:p.Thr878Pro
NM_001387113.2:c.2590A>C	NP_001374042.1:p.Thr864Pro
NM_016218.5:c.2590A>C	NP_057302.1:p.Thr864Pro
NR_144315.2:n.2455A>C
NR_170559.2:n.2444A>C
NR_170560.2:n.2676A>C
NM_001345921.3:c.2392A>C	NP_001332850.1:p.Thr798Pro
NM_001345922.3:c.2320A>C	NP_001332851.1:p.Thr774Pro
NM_001387110.3:c.2581A>C	NP_001374039.1:p.Thr861Pro
NM_001387111.3:c.2632A>C	NP_001374040.1:p.Thr878Pro
NM_001387113.3:c.2590A>C	NP_001374042.1:p.Thr864Pro
NM_001395893.1:c.2320A>C	NP_001382822.1:p.Thr774Pro
NM_001395894.1:c.2632A>C	NP_001382823.1:p.Thr878Pro
NM_001395897.1:c.2629A>C	NP_001382826.1:p.Thr877Pro
NM_001395899.1:c.2437A>C	NP_001382828.1:p.Thr813Pro
NM_001395900.1:c.2392A>C	NP_001382829.1:p.Thr798Pro
NM_001395901.1:c.2350A>C	NP_001382830.1:p.Thr784Pro
NM_001395902.1:c.2320A>C	NP_001382831.1:p.Thr774Pro
NM_016218.6:c.2590A>C MANE Select	NP_057302.1:p.Thr864Pro
NR_144315.3:n.2455A>C
NR_170559.3:n.2444A>C
NR_170560.3:n.2676A>C