Canonical Allele Identifier: CA360148745

Gene: POLK

Linked Data

• gnomAD v4: 5-75587059-G-T
• MyVariant Identifiers: chr5:g.74882884G>T (hg19) ; chr5:g.75587059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75587059G>T , CM000667.2:g.75587059G>T	GRCh38
NC_000005.9:g.74882884G>T , CM000667.1:g.74882884G>T	GRCh37
NC_000005.8:g.74918640G>T	NCBI36
NG_051590.1:g.80310G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000241436.9:c.1259+1G>T MANE Select	ENSP00000241436.4:n.1259+1G>T
ENST00000241436.8:c.1259+1G>T	ENSP00000241436.4:n.1259+1G>T
ENST00000503479.6:c.1061+1G>T	ENSP00000421997.2:n.1061+1G>T
ENST00000504026.5:c.1259+1G>T	ENSP00000425075.1:n.1259+1G>T
ENST00000505975.5:c.1373+1G>T	ENSP00000424859.1:n.1373+1G>T
ENST00000506928.5:n.1382+1G>T
ENST00000508526.5:c.934+5611G>T	ENSP00000426853.1:n.934+5611G>T
ENST00000509126.2:c.1259+1G>T	ENSP00000423532.1:n.1259+1G>T
ENST00000510815.6:c.989+1G>T	ENSP00000422094.2:n.989+1G>T
ENST00000511527.5:c.1373+1G>T	ENSP00000420997.1:n.1373+1G>T
ENST00000514141.5:c.1259+1G>T	ENSP00000423526.1:n.1259+1G>T
ENST00000515295.5:c.1259+1G>T	ENSP00000424174.1:n.1259+1G>T
NM_016218.2:c.1259+1G>T	NP_057302.1:n.1259+1G>T
XM_005248534.3:c.1301+1G>T	XP_005248591.1:n.1301+1G>T
XM_005248536.2:c.1301+1G>T	XP_005248593.1:n.1301+1G>T
XM_006714652.2:c.14+1G>T	XP_006714715.1:n.14+1G>T
XM_011543463.1:c.1301+1G>T	XP_011541765.1:n.1301+1G>T
XM_011543464.1:c.1301+1G>T	XP_011541766.1:n.1301+1G>T
XM_011543465.1:c.1301+1G>T	XP_011541767.1:n.1301+1G>T
XM_011543466.1:c.1301+1G>T	XP_011541768.1:n.1301+1G>T
XM_011543467.1:c.1031+1G>T	XP_011541769.1:n.1031+1G>T
XM_011543468.1:c.1259+1G>T	XP_011541770.1:n.1259+1G>T
XR_241783.2:n.1397+1G>T
XR_241784.1:n.1355+1G>T
XR_948273.1:n.1539+1G>T
NM_001345921.1:c.1061+1G>T	NP_001332850.1:n.1061+1G>T
NM_001345922.1:c.989+1G>T	NP_001332851.1:n.989+1G>T
NM_016218.3:c.1259+1G>T	NP_057302.1:n.1259+1G>T
NR_144315.1:n.1437+1G>T
XM_005248534.5:c.1301+1G>T	XP_005248591.1:n.1301+1G>T
XM_006714652.4:c.14+1G>T	XP_006714715.1:n.14+1G>T
XM_011543463.3:c.1301+1G>T	XP_011541765.1:n.1301+1G>T
XM_011543464.3:c.1301+1G>T	XP_011541766.1:n.1301+1G>T
XM_011543467.3:c.1031+1G>T	XP_011541769.1:n.1031+1G>T
XM_017009559.2:c.1259+1G>T	XP_016865048.1:n.1259+1G>T
XM_017009560.2:c.1259+1G>T	XP_016865049.1:n.1259+1G>T
XM_017009561.2:c.1103+1G>T	XP_016865050.1:n.1103+1G>T
XM_017009563.2:c.989+1G>T	XP_016865052.1:n.989+1G>T
XR_001742105.2:n.1921+1G>T
XR_001742107.2:n.1921+1G>T
XR_001742108.2:n.1539+1G>T
XR_002956163.1:n.3473+1G>T
XR_241784.3:n.1879+1G>T
XR_948273.3:n.1539+1G>T
NM_001345921.2:c.1061+1G>T	NP_001332850.1:n.1061+1G>T
NM_001345922.2:c.989+1G>T	NP_001332851.1:n.989+1G>T
NM_001387110.2:c.1259+1G>T	NP_001374039.1:n.1259+1G>T
NM_001387111.2:c.1301+1G>T	NP_001374040.1:n.1301+1G>T
NM_001387113.2:c.1259+1G>T	NP_001374042.1:n.1259+1G>T
NM_016218.5:c.1259+1G>T	NP_057302.1:n.1259+1G>T
NR_144315.2:n.1296+1G>T
NR_170559.2:n.1285+1G>T
NR_170560.2:n.1433+1G>T
NM_001345921.3:c.1061+1G>T	NP_001332850.1:n.1061+1G>T
NM_001345922.3:c.989+1G>T	NP_001332851.1:n.989+1G>T
NM_001387110.3:c.1259+1G>T	NP_001374039.1:n.1259+1G>T
NM_001387111.3:c.1301+1G>T	NP_001374040.1:n.1301+1G>T
NM_001387113.3:c.1259+1G>T	NP_001374042.1:n.1259+1G>T
NM_001395893.1:c.989+1G>T	NP_001382822.1:n.989+1G>T
NM_001395894.1:c.1301+1G>T	NP_001382823.1:n.1301+1G>T
NM_001395897.1:c.1298+1G>T	NP_001382826.1:n.1298+1G>T
NM_001395899.1:c.1106+1G>T	NP_001382828.1:n.1106+1G>T
NM_001395900.1:c.1061+1G>T	NP_001382829.1:n.1061+1G>T
NM_001395901.1:c.1019+1G>T	NP_001382830.1:n.1019+1G>T
NM_001395902.1:c.989+1G>T	NP_001382831.1:n.989+1G>T
NM_016218.6:c.1259+1G>T MANE Select	NP_057302.1:n.1259+1G>T
NR_144315.3:n.1296+1G>T
NR_170559.3:n.1285+1G>T
NR_170560.3:n.1433+1G>T