Canonical Allele Identifier: CA394336171
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092501G>C , CM000678.2:g.2092501G>C GRCh38
NC_000016.9:g.2142502G>C , CM000678.1:g.2142502G>C GRCh37
NC_000016.8:g.2082503G>C NCBI36
NG_008617.1:g.50720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11248C>G (PKD1) MANE Select ENSP00000262304.4:p.Arg3750Gly
ENST00000262304.8:c.11248C>G (PKD1) ENSP00000262304.4:p.Arg3750Gly
ENST00000423118.5:c.11245C>G (PKD1) ENSP00000399501.1:p.Arg3749Gly
ENST00000485120.1:n.97C>G (PKD1)
ENST00000487932.5:c.5810C>G (PKD1) ENSP00000457132.1:n.5810C>G
ENST00000562425.1:c.361C>G (PKD1)
ENST00000567355.1:n.411C>G (PKD1)
NM_000296.3:c.11245C>G (PKD1) NP_000287.3:p.Arg3749Gly
NM_001009944.2:c.11248C>G (PKD1) NP_001009944.2:p.Arg3750Gly
XM_005255370.2:c.8203C>G (PKD1) XP_005255427.1:p.Arg2735Gly
XM_011522525.1:c.11326C>G (PKD1) XP_011520827.1:p.Arg3776Gly
XM_011522526.1:c.11323C>G (PKD1) XP_011520828.1:p.Arg3775Gly
XM_011522527.1:c.11308C>G (PKD1) XP_011520829.1:p.Arg3770Gly
XM_011522528.1:c.11302C>G (PKD1) XP_011520830.1:p.Arg3768Gly
XM_011522529.1:c.11299C>G (PKD1) XP_011520831.1:p.Arg3767Gly
XM_011522530.1:c.11272C>G (PKD1) XP_011520832.1:p.Arg3758Gly
XM_011522531.1:c.11254C>G (PKD1) XP_011520833.1:p.Arg3752Gly
XM_011522532.1:c.11200C>G (PKD1) XP_011520834.1:p.Arg3734Gly
XM_011522533.1:c.11119C>G (PKD1) XP_011520835.1:p.Arg3707Gly
XM_011522534.1:c.11062C>G (PKD1) XP_011520836.1:p.Arg3688Gly
XM_011522535.1:c.9148C>G (PKD1) XP_011520837.1:p.Arg3050Gly
XM_011522537.1:c.8326C>G (PKD1) XP_011520839.1:p.Arg2776Gly
XR_932867.1:n.11341C>G (PKD1)
XR_932868.1:n.11110-313C>G (PKD1)
XR_932869.1:n.11110-313C>G (PKD1)
XR_932870.1:n.11201C>G (PKD1)
XR_933000.1:n.90-388G>C (PKD1-AS1)
XR_933001.1:n.180-388G>C (PKD1-AS1)
XR_933002.1:n.89-388G>C (PKD1-AS1)
XR_933003.1:n.89-388G>C (PKD1-AS1)
NR_135175.1:n.180-388G>C (PKD1-AS1)
XM_005255370.3:c.8203C>G (PKD1) XP_005255427.1:p.Arg2735Gly
XM_011522528.3:c.11302C>G (PKD1) XP_011520830.1:p.Arg3768Gly
XM_011522529.2:c.11299C>G (PKD1) XP_011520831.1:p.Arg3767Gly
XM_011522537.2:c.8326C>G (PKD1) XP_011520839.1:p.Arg2776Gly
XM_024450298.1:c.11368C>G (PKD1) XP_024306066.1:p.Arg3790Gly
XM_024450299.1:c.11296C>G (PKD1) XP_024306067.1:p.Arg3766Gly
XM_024450300.1:c.11158C>G (PKD1) XP_024306068.1:p.Arg3720Gly
XM_024450301.1:c.9244C>G (PKD1) XP_024306069.1:p.Arg3082Gly
NM_000296.4:c.11245C>G (PKD1) NP_000287.4:p.Arg3749Gly
NM_001009944.3:c.11248C>G (PKD1) MANE Select NP_001009944.3:p.Arg3750Gly