Canonical Allele Identifier: CA360154841

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893586G>C (hg19) ; chr5:g.75597761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597761G>C , CM000667.2:g.75597761G>C	GRCh38
NC_000005.9:g.74893586G>C , CM000667.1:g.74893586G>C	GRCh37
NC_000005.8:g.74929342G>C	NCBI36
NG_051590.1:g.91012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2500G>C MANE Select	ENSP00000241436.4:p.Val834Leu
ENST00000241436.8:c.2500G>C	ENSP00000241436.4:p.Val834Leu
ENST00000502567.1:n.345G>C
ENST00000503479.6:c.*1023G>C	ENSP00000421997.2:n.*1023G>C
ENST00000504026.5:c.1371G>C	ENSP00000425075.1:p.Glu457Asp
ENST00000505069.1:n.80G>C
ENST00000505975.5:c.2614G>C	ENSP00000424859.1:n.2614G>C
ENST00000506928.5:n.2623G>C
ENST00000508526.5:c.1906G>C	ENSP00000426853.1:p.Val636Leu
ENST00000509126.2:c.2328G>C	ENSP00000423532.1:n.2328G>C
ENST00000510815.6:c.*1023G>C	ENSP00000422094.2:n.*1023G>C
ENST00000511527.5:c.1485G>C	ENSP00000420997.1:n.1485G>C
ENST00000514141.5:c.*1119G>C	ENSP00000423526.1:n.*1119G>C
NM_016218.2:c.2500G>C	NP_057302.1:p.Val834Leu
XM_005248534.3:c.2542G>C	XP_005248591.1:p.Val848Leu
XM_006714652.2:c.1255G>C	XP_006714715.1:p.Val419Leu
XM_011543463.1:c.2542G>C	XP_011541765.1:p.Val848Leu
XM_011543464.1:c.2542G>C	XP_011541766.1:p.Val848Leu
XM_011543465.1:c.2542G>C	XP_011541767.1:p.Val848Leu
XM_011543466.1:c.2542G>C	XP_011541768.1:p.Val848Leu
XM_011543467.1:c.2272G>C	XP_011541769.1:p.Val758Leu
XR_241784.1:n.2508G>C
XR_948273.1:n.2692G>C
NM_001345921.1:c.2302G>C	NP_001332850.1:p.Val768Leu
NM_001345922.1:c.2230G>C	NP_001332851.1:p.Val744Leu
NM_016218.3:c.2500G>C	NP_057302.1:p.Val834Leu
NR_144315.1:n.2506G>C
XM_005248534.5:c.2542G>C	XP_005248591.1:p.Val848Leu
XM_006714652.4:c.1255G>C	XP_006714715.1:p.Val419Leu
XM_011543463.3:c.2542G>C	XP_011541765.1:p.Val848Leu
XM_011543464.3:c.2542G>C	XP_011541766.1:p.Val848Leu
XM_011543467.3:c.2272G>C	XP_011541769.1:p.Val758Leu
XM_017009559.2:c.2500G>C	XP_016865048.1:p.Val834Leu
XM_017009560.2:c.2500G>C	XP_016865049.1:p.Val834Leu
XM_017009561.2:c.2344G>C	XP_016865050.1:p.Val782Leu
XM_017009563.2:c.2230G>C	XP_016865052.1:p.Val744Leu
XR_001742105.2:n.2990G>C
XR_001742107.2:n.3074G>C
XR_001742108.2:n.2608G>C
XR_241784.3:n.3032G>C
XR_948273.3:n.2692G>C
NM_001345921.2:c.2302G>C	NP_001332850.1:p.Val768Leu
NM_001345922.2:c.2230G>C	NP_001332851.1:p.Val744Leu
NM_001387110.2:c.2491G>C	NP_001374039.1:p.Val831Leu
NM_001387111.2:c.2542G>C	NP_001374040.1:p.Val848Leu
NM_001387113.2:c.2500G>C	NP_001374042.1:p.Val834Leu
NM_016218.5:c.2500G>C	NP_057302.1:p.Val834Leu
NR_144315.2:n.2365G>C
NR_170559.2:n.2354G>C
NR_170560.2:n.2586G>C
NM_001345921.3:c.2302G>C	NP_001332850.1:p.Val768Leu
NM_001345922.3:c.2230G>C	NP_001332851.1:p.Val744Leu
NM_001387110.3:c.2491G>C	NP_001374039.1:p.Val831Leu
NM_001387111.3:c.2542G>C	NP_001374040.1:p.Val848Leu
NM_001387113.3:c.2500G>C	NP_001374042.1:p.Val834Leu
NM_001395893.1:c.2230G>C	NP_001382822.1:p.Val744Leu
NM_001395894.1:c.2542G>C	NP_001382823.1:p.Val848Leu
NM_001395897.1:c.2539G>C	NP_001382826.1:p.Val847Leu
NM_001395899.1:c.2347G>C	NP_001382828.1:p.Val783Leu
NM_001395900.1:c.2302G>C	NP_001382829.1:p.Val768Leu
NM_001395901.1:c.2260G>C	NP_001382830.1:p.Val754Leu
NM_001395902.1:c.2230G>C	NP_001382831.1:p.Val744Leu
NM_016218.6:c.2500G>C MANE Select	NP_057302.1:p.Val834Leu
NR_144315.3:n.2365G>C
NR_170559.3:n.2354G>C
NR_170560.3:n.2586G>C