Canonical Allele Identifier: CA360154947

Gene: POLK

Linked Data

• dbSNP Id: rs1285230226
• gnomAD v2: 5-74893770-T-C
• gnomAD v4: 5-75597945-T-C
• MyVariant Identifiers: chr5:g.74893770T>C (hg19) ; chr5:g.75597945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597945T>C , CM000667.2:g.75597945T>C	GRCh38
NC_000005.9:g.74893770T>C , CM000667.1:g.74893770T>C	GRCh37
NC_000005.8:g.74929526T>C	NCBI36
NG_051590.1:g.91196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2540T>C MANE Select	ENSP00000241436.4:p.Met847Thr
ENST00000241436.8:c.2540T>C	ENSP00000241436.4:p.Met847Thr
ENST00000502567.1:n.385T>C
ENST00000503479.6:c.*1063T>C	ENSP00000421997.2:n.*1063T>C
ENST00000504026.5:c.1411T>C	ENSP00000425075.1:n.1411T>C
ENST00000505069.1:n.264T>C
ENST00000505975.5:c.2654T>C	ENSP00000424859.1:n.2654T>C
ENST00000506928.5:n.2663T>C
ENST00000508526.5:c.1946T>C	ENSP00000426853.1:p.Met649Thr
ENST00000509126.2:c.2368T>C	ENSP00000423532.1:n.2368T>C
ENST00000510815.6:c.*1063T>C	ENSP00000422094.2:n.*1063T>C
ENST00000511527.5:c.1525T>C	ENSP00000420997.1:n.1525T>C
ENST00000514141.5:c.*1159T>C	ENSP00000423526.1:n.*1159T>C
NM_016218.2:c.2540T>C	NP_057302.1:p.Met847Thr
XM_005248534.3:c.2582T>C	XP_005248591.1:p.Met861Thr
XM_006714652.2:c.1295T>C	XP_006714715.1:p.Met432Thr
XM_011543463.1:c.2582T>C	XP_011541765.1:p.Met861Thr
XM_011543464.1:c.2582T>C	XP_011541766.1:p.Met861Thr
XM_011543465.1:c.2582T>C	XP_011541767.1:p.Met861Thr
XM_011543466.1:c.2582T>C	XP_011541768.1:p.Met861Thr
XM_011543467.1:c.2312T>C	XP_011541769.1:p.Met771Thr
XR_241784.1:n.2548T>C
XR_948273.1:n.2732T>C
NM_001345921.1:c.2342T>C	NP_001332850.1:p.Met781Thr
NM_001345922.1:c.2270T>C	NP_001332851.1:p.Met757Thr
NM_016218.3:c.2540T>C	NP_057302.1:p.Met847Thr
NR_144315.1:n.2546T>C
XM_005248534.5:c.2582T>C	XP_005248591.1:p.Met861Thr
XM_006714652.4:c.1295T>C	XP_006714715.1:p.Met432Thr
XM_011543463.3:c.2582T>C	XP_011541765.1:p.Met861Thr
XM_011543464.3:c.2582T>C	XP_011541766.1:p.Met861Thr
XM_011543467.3:c.2312T>C	XP_011541769.1:p.Met771Thr
XM_017009559.2:c.2540T>C	XP_016865048.1:p.Met847Thr
XM_017009560.2:c.2540T>C	XP_016865049.1:p.Met847Thr
XM_017009561.2:c.2384T>C	XP_016865050.1:p.Met795Thr
XM_017009563.2:c.2270T>C	XP_016865052.1:p.Met757Thr
XR_001742105.2:n.3030T>C
XR_001742107.2:n.3114T>C
XR_001742108.2:n.2648T>C
XR_241784.3:n.3072T>C
XR_948273.3:n.2732T>C
NM_001345921.2:c.2342T>C	NP_001332850.1:p.Met781Thr
NM_001345922.2:c.2270T>C	NP_001332851.1:p.Met757Thr
NM_001387110.2:c.2531T>C	NP_001374039.1:p.Met844Thr
NM_001387111.2:c.2582T>C	NP_001374040.1:p.Met861Thr
NM_001387113.2:c.2540T>C	NP_001374042.1:p.Met847Thr
NM_016218.5:c.2540T>C	NP_057302.1:p.Met847Thr
NR_144315.2:n.2405T>C
NR_170559.2:n.2394T>C
NR_170560.2:n.2626T>C
NM_001345921.3:c.2342T>C	NP_001332850.1:p.Met781Thr
NM_001345922.3:c.2270T>C	NP_001332851.1:p.Met757Thr
NM_001387110.3:c.2531T>C	NP_001374039.1:p.Met844Thr
NM_001387111.3:c.2582T>C	NP_001374040.1:p.Met861Thr
NM_001387113.3:c.2540T>C	NP_001374042.1:p.Met847Thr
NM_001395893.1:c.2270T>C	NP_001382822.1:p.Met757Thr
NM_001395894.1:c.2582T>C	NP_001382823.1:p.Met861Thr
NM_001395897.1:c.2579T>C	NP_001382826.1:p.Met860Thr
NM_001395899.1:c.2387T>C	NP_001382828.1:p.Met796Thr
NM_001395900.1:c.2342T>C	NP_001382829.1:p.Met781Thr
NM_001395901.1:c.2300T>C	NP_001382830.1:p.Met767Thr
NM_001395902.1:c.2270T>C	NP_001382831.1:p.Met757Thr
NM_016218.6:c.2540T>C MANE Select	NP_057302.1:p.Met847Thr
NR_144315.3:n.2405T>C
NR_170559.3:n.2394T>C
NR_170560.3:n.2626T>C