Canonical Allele Identifier: CA2202020558
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2091635634
gnomAD v4: 16-2092386-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092386G>A , CM000678.2:g.2092386G>A GRCh38
NC_000016.9:g.2142387G>A , CM000678.1:g.2142387G>A GRCh37
NC_000016.8:g.2082388G>A NCBI36
NG_008617.1:g.50835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11269+94C>T (PKD1) MANE Select ENSP00000262304.4:n.11269+94C>T
ENST00000262304.8:c.11269+94C>T (PKD1) ENSP00000262304.4:n.11269+94C>T
ENST00000423118.5:c.11266+94C>T (PKD1) ENSP00000399501.1:n.11266+94C>T
ENST00000485120.1:n.118+94C>T (PKD1)
ENST00000487932.5:c.5831+94C>T (PKD1) ENSP00000457132.1:n.5831+94C>T
ENST00000562425.1:c.382+94C>T (PKD1)
ENST00000567355.1:n.432+94C>T (PKD1)
NM_000296.3:c.11266+94C>T (PKD1) NP_000287.3:n.11266+94C>T
NM_001009944.2:c.11269+94C>T (PKD1) NP_001009944.2:n.11269+94C>T
XM_005255370.2:c.8224+94C>T (PKD1) XP_005255427.1:n.8224+94C>T
XM_011522525.1:c.11347+94C>T (PKD1) XP_011520827.1:n.11347+94C>T
XM_011522526.1:c.11344+94C>T (PKD1) XP_011520828.1:n.11344+94C>T
XM_011522527.1:c.11329+94C>T (PKD1) XP_011520829.1:n.11329+94C>T
XM_011522528.1:c.11323+94C>T (PKD1) XP_011520830.1:n.11323+94C>T
XM_011522529.1:c.11320+94C>T (PKD1) XP_011520831.1:n.11320+94C>T
XM_011522530.1:c.11293+94C>T (PKD1) XP_011520832.1:n.11293+94C>T
XM_011522531.1:c.11275+94C>T (PKD1) XP_011520833.1:n.11275+94C>T
XM_011522532.1:c.11221+94C>T (PKD1) XP_011520834.1:n.11221+94C>T
XM_011522533.1:c.11140+94C>T (PKD1) XP_011520835.1:n.11140+94C>T
XM_011522534.1:c.11083+94C>T (PKD1) XP_011520836.1:n.11083+94C>T
XM_011522535.1:c.9169+94C>T (PKD1) XP_011520837.1:n.9169+94C>T
XM_011522537.1:c.8347+94C>T (PKD1) XP_011520839.1:n.8347+94C>T
XR_932867.1:n.11362+94C>T (PKD1)
XR_932868.1:n.11110-198C>T (PKD1)
XR_932869.1:n.11110-198C>T (PKD1)
XR_932870.1:n.11222+94C>T (PKD1)
XR_933000.1:n.90-503G>A (PKD1-AS1)
XR_933001.1:n.180-503G>A (PKD1-AS1)
XR_933002.1:n.89-503G>A (PKD1-AS1)
XR_933003.1:n.89-503G>A (PKD1-AS1)
NR_135175.1:n.180-503G>A (PKD1-AS1)
XM_005255370.3:c.8224+94C>T (PKD1) XP_005255427.1:n.8224+94C>T
XM_011522528.3:c.11323+94C>T (PKD1) XP_011520830.1:n.11323+94C>T
XM_011522529.2:c.11320+94C>T (PKD1) XP_011520831.1:n.11320+94C>T
XM_011522537.2:c.8347+94C>T (PKD1) XP_011520839.1:n.8347+94C>T
XM_024450298.1:c.11389+94C>T (PKD1) XP_024306066.1:n.11389+94C>T
XM_024450299.1:c.11317+94C>T (PKD1) XP_024306067.1:n.11317+94C>T
XM_024450300.1:c.11179+94C>T (PKD1) XP_024306068.1:n.11179+94C>T
XM_024450301.1:c.9265+94C>T (PKD1) XP_024306069.1:n.9265+94C>T
NM_000296.4:c.11266+94C>T (PKD1) NP_000287.4:n.11266+94C>T
NM_001009944.3:c.11269+94C>T (PKD1) MANE Select NP_001009944.3:n.11269+94C>T