Canonical Allele Identifier: CA7829439
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2093864G>A , CM000678.2:g.2093864G>A GRCh38
NC_000016.9:g.2143865G>A , CM000678.1:g.2143865G>A GRCh37
NC_000016.8:g.2083866G>A NCBI36
NG_008617.1:g.49357C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10768C>T (PKD1) MANE Select ENSP00000262304.4:p.Leu3590=
ENST00000262304.8:c.10768C>T (PKD1) ENSP00000262304.4:p.Leu3590=
ENST00000423118.5:c.10765C>T (PKD1) ENSP00000399501.1:p.Leu3589=
ENST00000472659.1:n.205C>T (PKD1)
ENST00000487932.5:c.5330C>T (PKD1) ENSP00000457132.1:n.5330C>T
ENST00000562425.1:c.21C>T (PKD1)
ENST00000568796.1:n.10C>T (PKD1)
NM_000296.3:c.10765C>T (PKD1) NP_000287.3:p.Leu3589=
NM_001009944.2:c.10768C>T (PKD1) NP_001009944.2:p.Leu3590=
XM_005255370.2:c.7723C>T (PKD1) XP_005255427.1:p.Leu2575=
XM_011522525.1:c.10846C>T (PKD1) XP_011520827.1:p.Leu3616=
XM_011522526.1:c.10843C>T (PKD1) XP_011520828.1:p.Leu3615=
XM_011522527.1:c.10828C>T (PKD1) XP_011520829.1:p.Leu3610=
XM_011522528.1:c.10822C>T (PKD1) XP_011520830.1:p.Leu3608=
XM_011522529.1:c.10819C>T (PKD1) XP_011520831.1:p.Leu3607=
XM_011522530.1:c.10792C>T (PKD1) XP_011520832.1:p.Leu3598=
XM_011522531.1:c.10774C>T (PKD1) XP_011520833.1:p.Leu3592=
XM_011522532.1:c.10720C>T (PKD1) XP_011520834.1:p.Leu3574=
XM_011522533.1:c.10639C>T (PKD1) XP_011520835.1:p.Leu3547=
XM_011522534.1:c.10582C>T (PKD1) XP_011520836.1:p.Leu3528=
XM_011522535.1:c.8668C>T (PKD1) XP_011520837.1:p.Leu2890=
XM_011522537.1:c.7846C>T (PKD1) XP_011520839.1:p.Leu2616=
XR_932867.1:n.10861C>T (PKD1)
XR_932868.1:n.10861C>T (PKD1)
XR_932869.1:n.10861C>T (PKD1)
XR_932870.1:n.10861C>T (PKD1)
XR_933000.1:n.214-814G>A (PKD1-AS1)
XR_933001.1:n.303+852G>A (PKD1-AS1)
XR_933002.1:n.213-814G>A (PKD1-AS1)
XR_933003.1:n.212+852G>A (PKD1-AS1)
NR_135175.1:n.303+852G>A (PKD1-AS1)
XM_005255370.3:c.7723C>T (PKD1) XP_005255427.1:p.Leu2575=
XM_011522528.3:c.10822C>T (PKD1) XP_011520830.1:p.Leu3608=
XM_011522529.2:c.10819C>T (PKD1) XP_011520831.1:p.Leu3607=
XM_011522537.2:c.7846C>T (PKD1) XP_011520839.1:p.Leu2616=
XM_024450298.1:c.10888C>T (PKD1) XP_024306066.1:p.Leu3630=
XM_024450299.1:c.10816C>T (PKD1) XP_024306067.1:p.Leu3606=
XM_024450300.1:c.10678C>T (PKD1) XP_024306068.1:p.Leu3560=
XM_024450301.1:c.8764C>T (PKD1) XP_024306069.1:p.Leu2922=
NM_000296.4:c.10765C>T (PKD1) NP_000287.4:p.Leu3589=
NM_001009944.3:c.10768C>T (PKD1) MANE Select NP_001009944.3:p.Leu3590=