Canonical Allele Identifier: CA360155065

Gene: POLK

Linked Data

• MyVariant Identifiers: chr5:g.74893823C>G (hg19) ; chr5:g.75597998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597998C>G , CM000667.2:g.75597998C>G	GRCh38
NC_000005.9:g.74893823C>G , CM000667.1:g.74893823C>G	GRCh37
NC_000005.8:g.74929579C>G	NCBI36
NG_051590.1:g.91249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2593C>G MANE Select	ENSP00000241436.4:p.Leu865Val
ENST00000241436.8:c.2593C>G	ENSP00000241436.4:p.Leu865Val
ENST00000503479.6:c.*1116C>G	ENSP00000421997.2:n.*1116C>G
ENST00000504026.5:c.1464C>G	ENSP00000425075.1:n.1464C>G
ENST00000505069.1:n.317C>G
ENST00000505975.5:c.2707C>G	ENSP00000424859.1:n.2707C>G
ENST00000506928.5:n.2716C>G
ENST00000508526.5:c.1999C>G	ENSP00000426853.1:p.Leu667Val
ENST00000509126.2:c.2421C>G	ENSP00000423532.1:n.2421C>G
ENST00000510815.6:c.*1116C>G	ENSP00000422094.2:n.*1116C>G
ENST00000511527.5:c.1578C>G	ENSP00000420997.1:n.1578C>G
ENST00000514141.5:c.*1212C>G	ENSP00000423526.1:n.*1212C>G
NM_016218.2:c.2593C>G	NP_057302.1:p.Leu865Val
XM_005248534.3:c.2635C>G	XP_005248591.1:p.Leu879Val
XM_006714652.2:c.1348C>G	XP_006714715.1:p.Leu450Val
XM_011543463.1:c.2635C>G	XP_011541765.1:p.Leu879Val
XM_011543464.1:c.2635C>G	XP_011541766.1:p.Leu879Val
XM_011543465.1:c.2635C>G	XP_011541767.1:p.Leu879Val
XM_011543466.1:c.2635C>G	XP_011541768.1:p.Leu879Val
XM_011543467.1:c.2365C>G	XP_011541769.1:p.Leu789Val
XR_241784.1:n.2601C>G
XR_948273.1:n.2785C>G
NM_001345921.1:c.2395C>G	NP_001332850.1:p.Leu799Val
NM_001345922.1:c.2323C>G	NP_001332851.1:p.Leu775Val
NM_016218.3:c.2593C>G	NP_057302.1:p.Leu865Val
NR_144315.1:n.2599C>G
XM_005248534.5:c.2635C>G	XP_005248591.1:p.Leu879Val
XM_006714652.4:c.1348C>G	XP_006714715.1:p.Leu450Val
XM_011543463.3:c.2635C>G	XP_011541765.1:p.Leu879Val
XM_011543464.3:c.2635C>G	XP_011541766.1:p.Leu879Val
XM_011543467.3:c.2365C>G	XP_011541769.1:p.Leu789Val
XM_017009559.2:c.2593C>G	XP_016865048.1:p.Leu865Val
XM_017009560.2:c.2593C>G	XP_016865049.1:p.Leu865Val
XM_017009561.2:c.2437C>G	XP_016865050.1:p.Leu813Val
XM_017009563.2:c.2323C>G	XP_016865052.1:p.Leu775Val
XR_001742105.2:n.3083C>G
XR_001742107.2:n.3167C>G
XR_001742108.2:n.2701C>G
XR_241784.3:n.3125C>G
XR_948273.3:n.2785C>G
NM_001345921.2:c.2395C>G	NP_001332850.1:p.Leu799Val
NM_001345922.2:c.2323C>G	NP_001332851.1:p.Leu775Val
NM_001387110.2:c.2584C>G	NP_001374039.1:p.Leu862Val
NM_001387111.2:c.2635C>G	NP_001374040.1:p.Leu879Val
NM_001387113.2:c.2593C>G	NP_001374042.1:p.Leu865Val
NM_016218.5:c.2593C>G	NP_057302.1:p.Leu865Val
NR_144315.2:n.2458C>G
NR_170559.2:n.2447C>G
NR_170560.2:n.2679C>G
NM_001345921.3:c.2395C>G	NP_001332850.1:p.Leu799Val
NM_001345922.3:c.2323C>G	NP_001332851.1:p.Leu775Val
NM_001387110.3:c.2584C>G	NP_001374039.1:p.Leu862Val
NM_001387111.3:c.2635C>G	NP_001374040.1:p.Leu879Val
NM_001387113.3:c.2593C>G	NP_001374042.1:p.Leu865Val
NM_001395893.1:c.2323C>G	NP_001382822.1:p.Leu775Val
NM_001395894.1:c.2635C>G	NP_001382823.1:p.Leu879Val
NM_001395897.1:c.2632C>G	NP_001382826.1:p.Leu878Val
NM_001395899.1:c.2440C>G	NP_001382828.1:p.Leu814Val
NM_001395900.1:c.2395C>G	NP_001382829.1:p.Leu799Val
NM_001395901.1:c.2353C>G	NP_001382830.1:p.Leu785Val
NM_001395902.1:c.2323C>G	NP_001382831.1:p.Leu775Val
NM_016218.6:c.2593C>G MANE Select	NP_057302.1:p.Leu865Val
NR_144315.3:n.2458C>G
NR_170559.3:n.2447C>G
NR_170560.3:n.2679C>G