Canonical Allele Identifier: CA360154927

Gene: POLK

Linked Data

• dbSNP Id: rs1322055045
• gnomAD v2: 5-74893760-C-T
• gnomAD v4: 5-75597935-C-T
• MyVariant Identifiers: chr5:g.74893760C>T (hg19) ; chr5:g.75597935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597935C>T , CM000667.2:g.75597935C>T	GRCh38
NC_000005.9:g.74893760C>T , CM000667.1:g.74893760C>T	GRCh37
NC_000005.8:g.74929516C>T	NCBI36
NG_051590.1:g.91186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2530C>T MANE Select	ENSP00000241436.4:p.Pro844Ser
ENST00000241436.8:c.2530C>T	ENSP00000241436.4:p.Pro844Ser
ENST00000502567.1:n.375C>T
ENST00000503479.6:c.*1053C>T	ENSP00000421997.2:n.*1053C>T
ENST00000504026.5:c.1401C>T	ENSP00000425075.1:n.1401C>T
ENST00000505069.1:n.254C>T
ENST00000505975.5:c.2644C>T	ENSP00000424859.1:n.2644C>T
ENST00000506928.5:n.2653C>T
ENST00000508526.5:c.1936C>T	ENSP00000426853.1:p.Pro646Ser
ENST00000509126.2:c.2358C>T	ENSP00000423532.1:n.2358C>T
ENST00000510815.6:c.*1053C>T	ENSP00000422094.2:n.*1053C>T
ENST00000511527.5:c.1515C>T	ENSP00000420997.1:n.1515C>T
ENST00000514141.5:c.*1149C>T	ENSP00000423526.1:n.*1149C>T
NM_016218.2:c.2530C>T	NP_057302.1:p.Pro844Ser
XM_005248534.3:c.2572C>T	XP_005248591.1:p.Pro858Ser
XM_006714652.2:c.1285C>T	XP_006714715.1:p.Pro429Ser
XM_011543463.1:c.2572C>T	XP_011541765.1:p.Pro858Ser
XM_011543464.1:c.2572C>T	XP_011541766.1:p.Pro858Ser
XM_011543465.1:c.2572C>T	XP_011541767.1:p.Pro858Ser
XM_011543466.1:c.2572C>T	XP_011541768.1:p.Pro858Ser
XM_011543467.1:c.2302C>T	XP_011541769.1:p.Pro768Ser
XR_241784.1:n.2538C>T
XR_948273.1:n.2722C>T
NM_001345921.1:c.2332C>T	NP_001332850.1:p.Pro778Ser
NM_001345922.1:c.2260C>T	NP_001332851.1:p.Pro754Ser
NM_016218.3:c.2530C>T	NP_057302.1:p.Pro844Ser
NR_144315.1:n.2536C>T
XM_005248534.5:c.2572C>T	XP_005248591.1:p.Pro858Ser
XM_006714652.4:c.1285C>T	XP_006714715.1:p.Pro429Ser
XM_011543463.3:c.2572C>T	XP_011541765.1:p.Pro858Ser
XM_011543464.3:c.2572C>T	XP_011541766.1:p.Pro858Ser
XM_011543467.3:c.2302C>T	XP_011541769.1:p.Pro768Ser
XM_017009559.2:c.2530C>T	XP_016865048.1:p.Pro844Ser
XM_017009560.2:c.2530C>T	XP_016865049.1:p.Pro844Ser
XM_017009561.2:c.2374C>T	XP_016865050.1:p.Pro792Ser
XM_017009563.2:c.2260C>T	XP_016865052.1:p.Pro754Ser
XR_001742105.2:n.3020C>T
XR_001742107.2:n.3104C>T
XR_001742108.2:n.2638C>T
XR_241784.3:n.3062C>T
XR_948273.3:n.2722C>T
NM_001345921.2:c.2332C>T	NP_001332850.1:p.Pro778Ser
NM_001345922.2:c.2260C>T	NP_001332851.1:p.Pro754Ser
NM_001387110.2:c.2521C>T	NP_001374039.1:p.Pro841Ser
NM_001387111.2:c.2572C>T	NP_001374040.1:p.Pro858Ser
NM_001387113.2:c.2530C>T	NP_001374042.1:p.Pro844Ser
NM_016218.5:c.2530C>T	NP_057302.1:p.Pro844Ser
NR_144315.2:n.2395C>T
NR_170559.2:n.2384C>T
NR_170560.2:n.2616C>T
NM_001345921.3:c.2332C>T	NP_001332850.1:p.Pro778Ser
NM_001345922.3:c.2260C>T	NP_001332851.1:p.Pro754Ser
NM_001387110.3:c.2521C>T	NP_001374039.1:p.Pro841Ser
NM_001387111.3:c.2572C>T	NP_001374040.1:p.Pro858Ser
NM_001387113.3:c.2530C>T	NP_001374042.1:p.Pro844Ser
NM_001395893.1:c.2260C>T	NP_001382822.1:p.Pro754Ser
NM_001395894.1:c.2572C>T	NP_001382823.1:p.Pro858Ser
NM_001395897.1:c.2569C>T	NP_001382826.1:p.Pro857Ser
NM_001395899.1:c.2377C>T	NP_001382828.1:p.Pro793Ser
NM_001395900.1:c.2332C>T	NP_001382829.1:p.Pro778Ser
NM_001395901.1:c.2290C>T	NP_001382830.1:p.Pro764Ser
NM_001395902.1:c.2260C>T	NP_001382831.1:p.Pro754Ser
NM_016218.6:c.2530C>T MANE Select	NP_057302.1:p.Pro844Ser
NR_144315.3:n.2395C>T
NR_170559.3:n.2384C>T
NR_170560.3:n.2616C>T