Canonical Allele Identifier: CA394336145
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092495C>A , CM000678.2:g.2092495C>A GRCh38
NC_000016.9:g.2142496C>A , CM000678.1:g.2142496C>A GRCh37
NC_000016.8:g.2082497C>A NCBI36
NG_008617.1:g.50726G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11254G>T (PKD1) MANE Select ENSP00000262304.4:p.Val3752Leu
ENST00000262304.8:c.11254G>T (PKD1) ENSP00000262304.4:p.Val3752Leu
ENST00000423118.5:c.11251G>T (PKD1) ENSP00000399501.1:p.Val3751Leu
ENST00000485120.1:n.103G>T (PKD1)
ENST00000487932.5:c.5816G>T (PKD1) ENSP00000457132.1:n.5816G>T
ENST00000562425.1:c.367G>T (PKD1)
ENST00000567355.1:n.417G>T (PKD1)
NM_000296.3:c.11251G>T (PKD1) NP_000287.3:p.Val3751Leu
NM_001009944.2:c.11254G>T (PKD1) NP_001009944.2:p.Val3752Leu
XM_005255370.2:c.8209G>T (PKD1) XP_005255427.1:p.Val2737Leu
XM_011522525.1:c.11332G>T (PKD1) XP_011520827.1:p.Val3778Leu
XM_011522526.1:c.11329G>T (PKD1) XP_011520828.1:p.Val3777Leu
XM_011522527.1:c.11314G>T (PKD1) XP_011520829.1:p.Val3772Leu
XM_011522528.1:c.11308G>T (PKD1) XP_011520830.1:p.Val3770Leu
XM_011522529.1:c.11305G>T (PKD1) XP_011520831.1:p.Val3769Leu
XM_011522530.1:c.11278G>T (PKD1) XP_011520832.1:p.Val3760Leu
XM_011522531.1:c.11260G>T (PKD1) XP_011520833.1:p.Val3754Leu
XM_011522532.1:c.11206G>T (PKD1) XP_011520834.1:p.Val3736Leu
XM_011522533.1:c.11125G>T (PKD1) XP_011520835.1:p.Val3709Leu
XM_011522534.1:c.11068G>T (PKD1) XP_011520836.1:p.Val3690Leu
XM_011522535.1:c.9154G>T (PKD1) XP_011520837.1:p.Val3052Leu
XM_011522537.1:c.8332G>T (PKD1) XP_011520839.1:p.Val2778Leu
XR_932867.1:n.11347G>T (PKD1)
XR_932868.1:n.11110-307G>T (PKD1)
XR_932869.1:n.11110-307G>T (PKD1)
XR_932870.1:n.11207G>T (PKD1)
XR_933000.1:n.90-394C>A (PKD1-AS1)
XR_933001.1:n.180-394C>A (PKD1-AS1)
XR_933002.1:n.89-394C>A (PKD1-AS1)
XR_933003.1:n.89-394C>A (PKD1-AS1)
NR_135175.1:n.180-394C>A (PKD1-AS1)
XM_005255370.3:c.8209G>T (PKD1) XP_005255427.1:p.Val2737Leu
XM_011522528.3:c.11308G>T (PKD1) XP_011520830.1:p.Val3770Leu
XM_011522529.2:c.11305G>T (PKD1) XP_011520831.1:p.Val3769Leu
XM_011522537.2:c.8332G>T (PKD1) XP_011520839.1:p.Val2778Leu
XM_024450298.1:c.11374G>T (PKD1) XP_024306066.1:p.Val3792Leu
XM_024450299.1:c.11302G>T (PKD1) XP_024306067.1:p.Val3768Leu
XM_024450300.1:c.11164G>T (PKD1) XP_024306068.1:p.Val3722Leu
XM_024450301.1:c.9250G>T (PKD1) XP_024306069.1:p.Val3084Leu
NM_000296.4:c.11251G>T (PKD1) NP_000287.4:p.Val3751Leu
NM_001009944.3:c.11254G>T (PKD1) MANE Select NP_001009944.3:p.Val3752Leu