Canonical Allele Identifier: CA394336437
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092570T>A , CM000678.2:g.2092570T>A GRCh38
NC_000016.9:g.2142571T>A , CM000678.1:g.2142571T>A GRCh37
NC_000016.8:g.2082572T>A NCBI36
NG_008617.1:g.50651A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11179A>T (PKD1) MANE Select ENSP00000262304.4:p.Met3727Leu
ENST00000262304.8:c.11179A>T (PKD1) ENSP00000262304.4:p.Met3727Leu
ENST00000423118.5:c.11176A>T (PKD1) ENSP00000399501.1:p.Met3726Leu
ENST00000485120.1:n.28A>T (PKD1)
ENST00000487932.5:c.5741A>T (PKD1) ENSP00000457132.1:n.5741A>T
ENST00000562425.1:c.292A>T (PKD1)
ENST00000567355.1:n.342A>T (PKD1)
NM_000296.3:c.11176A>T (PKD1) NP_000287.3:p.Met3726Leu
NM_001009944.2:c.11179A>T (PKD1) NP_001009944.2:p.Met3727Leu
XM_005255370.2:c.8134A>T (PKD1) XP_005255427.1:p.Met2712Leu
XM_011522525.1:c.11257A>T (PKD1) XP_011520827.1:p.Met3753Leu
XM_011522526.1:c.11254A>T (PKD1) XP_011520828.1:p.Met3752Leu
XM_011522527.1:c.11239A>T (PKD1) XP_011520829.1:p.Met3747Leu
XM_011522528.1:c.11233A>T (PKD1) XP_011520830.1:p.Met3745Leu
XM_011522529.1:c.11230A>T (PKD1) XP_011520831.1:p.Met3744Leu
XM_011522530.1:c.11203A>T (PKD1) XP_011520832.1:p.Met3735Leu
XM_011522531.1:c.11185A>T (PKD1) XP_011520833.1:p.Met3729Leu
XM_011522532.1:c.11131A>T (PKD1) XP_011520834.1:p.Met3711Leu
XM_011522533.1:c.11050A>T (PKD1) XP_011520835.1:p.Met3684Leu
XM_011522534.1:c.10993A>T (PKD1) XP_011520836.1:p.Met3665Leu
XM_011522535.1:c.9079A>T (PKD1) XP_011520837.1:p.Met3027Leu
XM_011522537.1:c.8257A>T (PKD1) XP_011520839.1:p.Met2753Leu
XR_932867.1:n.11272A>T (PKD1)
XR_932868.1:n.11110-382A>T (PKD1)
XR_932869.1:n.11110-382A>T (PKD1)
XR_932870.1:n.11132A>T (PKD1)
XR_933000.1:n.90-319T>A (PKD1-AS1)
XR_933001.1:n.180-319T>A (PKD1-AS1)
XR_933002.1:n.89-319T>A (PKD1-AS1)
XR_933003.1:n.89-319T>A (PKD1-AS1)
NR_135175.1:n.180-319T>A (PKD1-AS1)
XM_005255370.3:c.8134A>T (PKD1) XP_005255427.1:p.Met2712Leu
XM_011522528.3:c.11233A>T (PKD1) XP_011520830.1:p.Met3745Leu
XM_011522529.2:c.11230A>T (PKD1) XP_011520831.1:p.Met3744Leu
XM_011522537.2:c.8257A>T (PKD1) XP_011520839.1:p.Met2753Leu
XM_024450298.1:c.11299A>T (PKD1) XP_024306066.1:p.Met3767Leu
XM_024450299.1:c.11227A>T (PKD1) XP_024306067.1:p.Met3743Leu
XM_024450300.1:c.11089A>T (PKD1) XP_024306068.1:p.Met3697Leu
XM_024450301.1:c.9175A>T (PKD1) XP_024306069.1:p.Met3059Leu
NM_000296.4:c.11176A>T (PKD1) NP_000287.4:p.Met3726Leu
NM_001009944.3:c.11179A>T (PKD1) MANE Select NP_001009944.3:p.Met3727Leu