Canonical Allele Identifier: CA394341526
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094134G>C , CM000678.2:g.2094134G>C GRCh38
NC_000016.9:g.2144135G>C , CM000678.1:g.2144135G>C GRCh37
NC_000016.8:g.2084136G>C NCBI36
NG_008617.1:g.49087C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10576C>G (PKD1) MANE Select ENSP00000262304.4:p.Leu3526Val
ENST00000262304.8:c.10576C>G (PKD1) ENSP00000262304.4:p.Leu3526Val
ENST00000423118.5:c.10573C>G (PKD1) ENSP00000399501.1:p.Leu3525Val
ENST00000472659.1:n.13C>G (PKD1)
ENST00000487932.5:c.5138C>G (PKD1) ENSP00000457132.1:n.5138C>G
NM_000296.3:c.10573C>G (PKD1) NP_000287.3:p.Leu3525Val
NM_001009944.2:c.10576C>G (PKD1) NP_001009944.2:p.Leu3526Val
XM_005255370.2:c.7531C>G (PKD1) XP_005255427.1:p.Leu2511Val
XM_011522525.1:c.10654C>G (PKD1) XP_011520827.1:p.Leu3552Val
XM_011522526.1:c.10651C>G (PKD1) XP_011520828.1:p.Leu3551Val
XM_011522527.1:c.10636C>G (PKD1) XP_011520829.1:p.Leu3546Val
XM_011522528.1:c.10630C>G (PKD1) XP_011520830.1:p.Leu3544Val
XM_011522529.1:c.10627C>G (PKD1) XP_011520831.1:p.Leu3543Val
XM_011522530.1:c.10600C>G (PKD1) XP_011520832.1:p.Leu3534Val
XM_011522531.1:c.10582C>G (PKD1) XP_011520833.1:p.Leu3528Val
XM_011522532.1:c.10528C>G (PKD1) XP_011520834.1:p.Leu3510Val
XM_011522533.1:c.10447C>G (PKD1) XP_011520835.1:p.Leu3483Val
XM_011522534.1:c.10390C>G (PKD1) XP_011520836.1:p.Leu3464Val
XM_011522535.1:c.8476C>G (PKD1) XP_011520837.1:p.Leu2826Val
XM_011522537.1:c.7654C>G (PKD1) XP_011520839.1:p.Leu2552Val
XR_932867.1:n.10669C>G (PKD1)
XR_932868.1:n.10669C>G (PKD1)
XR_932869.1:n.10669C>G (PKD1)
XR_932870.1:n.10669C>G (PKD1)
XR_933000.1:n.214-544G>C (PKD1-AS1)
XR_933001.1:n.304-587G>C (PKD1-AS1)
XR_933002.1:n.213-544G>C (PKD1-AS1)
XR_933003.1:n.213-587G>C (PKD1-AS1)
NR_135175.1:n.304-587G>C (PKD1-AS1)
XM_005255370.3:c.7531C>G (PKD1) XP_005255427.1:p.Leu2511Val
XM_011522528.3:c.10630C>G (PKD1) XP_011520830.1:p.Leu3544Val
XM_011522529.2:c.10627C>G (PKD1) XP_011520831.1:p.Leu3543Val
XM_011522537.2:c.7654C>G (PKD1) XP_011520839.1:p.Leu2552Val
XM_024450298.1:c.10696C>G (PKD1) XP_024306066.1:p.Leu3566Val
XM_024450299.1:c.10624C>G (PKD1) XP_024306067.1:p.Leu3542Val
XM_024450300.1:c.10486C>G (PKD1) XP_024306068.1:p.Leu3496Val
XM_024450301.1:c.8572C>G (PKD1) XP_024306069.1:p.Leu2858Val
NM_000296.4:c.10573C>G (PKD1) NP_000287.4:p.Leu3525Val
NM_001009944.3:c.10576C>G (PKD1) MANE Select NP_001009944.3:p.Leu3526Val