Canonical Allele Identifier: CA2674280302

Gene: POLK

Linked Data

• gnomAD v4: 5-75597736-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597736T>G , CM000667.2:g.75597736T>G	GRCh38
NC_000005.9:g.74893561T>G , CM000667.1:g.74893561T>G	GRCh37
NC_000005.8:g.74929317T>G	NCBI36
NG_051590.1:g.90987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2486-11T>G MANE Select	ENSP00000241436.4:n.2486-11T>G
ENST00000241436.8:c.2486-11T>G	ENSP00000241436.4:n.2486-11T>G
ENST00000502567.1:n.320T>G
ENST00000503479.6:c.*1009-11T>G	ENSP00000421997.2:n.*1009-11T>G
ENST00000504026.5:c.1357-11T>G	ENSP00000425075.1:n.1357-11T>G
ENST00000505069.1:n.66-11T>G
ENST00000505975.5:c.2600-11T>G	ENSP00000424859.1:n.2600-11T>G
ENST00000506928.5:n.2609-11T>G
ENST00000508526.5:c.1892-11T>G	ENSP00000426853.1:n.1892-11T>G
ENST00000509126.2:c.2314-11T>G	ENSP00000423532.1:n.2314-11T>G
ENST00000510815.6:c.*1009-11T>G	ENSP00000422094.2:n.*1009-11T>G
ENST00000511527.5:c.1471-11T>G	ENSP00000420997.1:n.1471-11T>G
ENST00000514141.5:c.*1105-11T>G	ENSP00000423526.1:n.*1105-11T>G
NM_016218.2:c.2486-11T>G	NP_057302.1:n.2486-11T>G
XM_005248534.3:c.2528-11T>G	XP_005248591.1:n.2528-11T>G
XM_006714652.2:c.1241-11T>G	XP_006714715.1:n.1241-11T>G
XM_011543463.1:c.2528-11T>G	XP_011541765.1:n.2528-11T>G
XM_011543464.1:c.2528-11T>G	XP_011541766.1:n.2528-11T>G
XM_011543465.1:c.2528-11T>G	XP_011541767.1:n.2528-11T>G
XM_011543466.1:c.2528-11T>G	XP_011541768.1:n.2528-11T>G
XM_011543467.1:c.2258-11T>G	XP_011541769.1:n.2258-11T>G
XR_241784.1:n.2494-11T>G
XR_948273.1:n.2678-11T>G
NM_001345921.1:c.2288-11T>G	NP_001332850.1:n.2288-11T>G
NM_001345922.1:c.2216-11T>G	NP_001332851.1:n.2216-11T>G
NM_016218.3:c.2486-11T>G	NP_057302.1:n.2486-11T>G
NR_144315.1:n.2492-11T>G
XM_005248534.5:c.2528-11T>G	XP_005248591.1:n.2528-11T>G
XM_006714652.4:c.1241-11T>G	XP_006714715.1:n.1241-11T>G
XM_011543463.3:c.2528-11T>G	XP_011541765.1:n.2528-11T>G
XM_011543464.3:c.2528-11T>G	XP_011541766.1:n.2528-11T>G
XM_011543467.3:c.2258-11T>G	XP_011541769.1:n.2258-11T>G
XM_017009559.2:c.2486-11T>G	XP_016865048.1:n.2486-11T>G
XM_017009560.2:c.2486-11T>G	XP_016865049.1:n.2486-11T>G
XM_017009561.2:c.2330-11T>G	XP_016865050.1:n.2330-11T>G
XM_017009563.2:c.2216-11T>G	XP_016865052.1:n.2216-11T>G
XR_001742105.2:n.2976-11T>G
XR_001742107.2:n.3060-11T>G
XR_001742108.2:n.2594-11T>G
XR_241784.3:n.3018-11T>G
XR_948273.3:n.2678-11T>G
NM_001345921.2:c.2288-11T>G	NP_001332850.1:n.2288-11T>G
NM_001345922.2:c.2216-11T>G	NP_001332851.1:n.2216-11T>G
NM_001387110.2:c.2477-11T>G	NP_001374039.1:n.2477-11T>G
NM_001387111.2:c.2528-11T>G	NP_001374040.1:n.2528-11T>G
NM_001387113.2:c.2486-11T>G	NP_001374042.1:n.2486-11T>G
NM_016218.5:c.2486-11T>G	NP_057302.1:n.2486-11T>G
NR_144315.2:n.2351-11T>G
NR_170559.2:n.2340-11T>G
NR_170560.2:n.2572-11T>G
NM_001345921.3:c.2288-11T>G	NP_001332850.1:n.2288-11T>G
NM_001345922.3:c.2216-11T>G	NP_001332851.1:n.2216-11T>G
NM_001387110.3:c.2477-11T>G	NP_001374039.1:n.2477-11T>G
NM_001387111.3:c.2528-11T>G	NP_001374040.1:n.2528-11T>G
NM_001387113.3:c.2486-11T>G	NP_001374042.1:n.2486-11T>G
NM_001395893.1:c.2216-11T>G	NP_001382822.1:n.2216-11T>G
NM_001395894.1:c.2528-11T>G	NP_001382823.1:n.2528-11T>G
NM_001395897.1:c.2525-11T>G	NP_001382826.1:n.2525-11T>G
NM_001395899.1:c.2333-11T>G	NP_001382828.1:n.2333-11T>G
NM_001395900.1:c.2288-11T>G	NP_001382829.1:n.2288-11T>G
NM_001395901.1:c.2246-11T>G	NP_001382830.1:n.2246-11T>G
NM_001395902.1:c.2216-11T>G	NP_001382831.1:n.2216-11T>G
NM_016218.6:c.2486-11T>G MANE Select	NP_057302.1:n.2486-11T>G
NR_144315.3:n.2351-11T>G
NR_170559.3:n.2340-11T>G
NR_170560.3:n.2572-11T>G