Canonical Allele Identifier: CA2575877530
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 16-2091699-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091699C>T , CM000678.2:g.2091699C>T GRCh38
NC_000016.9:g.2141700C>T , CM000678.1:g.2141700C>T GRCh37
NC_000016.8:g.2081701C>T NCBI36
NG_008617.1:g.51522G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11537+82G>A (PKD1) MANE Select ENSP00000262304.4:n.11537+82G>A
ENST00000262304.8:c.11537+82G>A (PKD1) ENSP00000262304.4:n.11537+82G>A
ENST00000423118.5:c.11534+82G>A (PKD1) ENSP00000399501.1:n.11534+82G>A
ENST00000485120.1:n.526+82G>A (PKD1)
ENST00000487932.5:c.6099+82G>A (PKD1) ENSP00000457132.1:n.6099+82G>A
ENST00000561668.5:c.198+82G>A (PKD1)
ENST00000564313.1:n.233+82G>A (PKD1)
NM_000296.3:c.11534+82G>A (PKD1) NP_000287.3:n.11534+82G>A
NM_001009944.2:c.11537+82G>A (PKD1) NP_001009944.2:n.11537+82G>A
XM_005255370.2:c.8492+82G>A (PKD1) XP_005255427.1:n.8492+82G>A
XM_011522525.1:c.11615+82G>A (PKD1) XP_011520827.1:n.11615+82G>A
XM_011522526.1:c.11612+82G>A (PKD1) XP_011520828.1:n.11612+82G>A
XM_011522527.1:c.11597+82G>A (PKD1) XP_011520829.1:n.11597+82G>A
XM_011522528.1:c.11591+82G>A (PKD1) XP_011520830.1:n.11591+82G>A
XM_011522529.1:c.11588+82G>A (PKD1) XP_011520831.1:n.11588+82G>A
XM_011522530.1:c.11561+82G>A (PKD1) XP_011520832.1:n.11561+82G>A
XM_011522531.1:c.11543+82G>A (PKD1) XP_011520833.1:n.11543+82G>A
XM_011522532.1:c.11489+82G>A (PKD1) XP_011520834.1:n.11489+82G>A
XM_011522533.1:c.11408+82G>A (PKD1) XP_011520835.1:n.11408+82G>A
XM_011522534.1:c.11351+82G>A (PKD1) XP_011520836.1:n.11351+82G>A
XM_011522535.1:c.9437+82G>A (PKD1) XP_011520837.1:n.9437+82G>A
XM_011522537.1:c.8615+82G>A (PKD1) XP_011520839.1:n.8615+82G>A
XR_932867.1:n.11630+82G>A (PKD1)
XR_932868.1:n.11377+82G>A (PKD1)
XR_932869.1:n.11377+82G>A (PKD1)
XR_933000.1:n.89+85C>T (PKD1-AS1)
XR_933001.1:n.179+85C>T (PKD1-AS1)
XR_933002.1:n.88+91C>T (PKD1-AS1)
XR_933003.1:n.88+91C>T (PKD1-AS1)
NR_135175.1:n.179+85C>T (PKD1-AS1)
XM_005255370.3:c.8492+82G>A (PKD1) XP_005255427.1:n.8492+82G>A
XM_011522528.3:c.11591+82G>A (PKD1) XP_011520830.1:n.11591+82G>A
XM_011522529.2:c.11588+82G>A (PKD1) XP_011520831.1:n.11588+82G>A
XM_011522537.2:c.8615+82G>A (PKD1) XP_011520839.1:n.8615+82G>A
XM_024450298.1:c.11657+82G>A (PKD1) XP_024306066.1:n.11657+82G>A
XM_024450299.1:c.11585+82G>A (PKD1) XP_024306067.1:n.11585+82G>A
XM_024450300.1:c.11447+82G>A (PKD1) XP_024306068.1:n.11447+82G>A
XM_024450301.1:c.9533+82G>A (PKD1) XP_024306069.1:n.9533+82G>A
NM_000296.4:c.11534+82G>A (PKD1) NP_000287.4:n.11534+82G>A
NM_001009944.3:c.11537+82G>A (PKD1) MANE Select NP_001009944.3:n.11537+82G>A