Canonical Allele Identifier: CA7829398
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2093688C>T , CM000678.2:g.2093688C>T GRCh38
NC_000016.9:g.2143689C>T , CM000678.1:g.2143689C>T GRCh37
NC_000016.8:g.2083690C>T NCBI36
NG_008617.1:g.49533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10872G>A (PKD1) MANE Select ENSP00000262304.4:p.Pro3624=
ENST00000262304.8:c.10872G>A (PKD1) ENSP00000262304.4:p.Pro3624=
ENST00000423118.5:c.10869G>A (PKD1) ENSP00000399501.1:p.Pro3623=
ENST00000472659.1:n.309G>A (PKD1)
ENST00000487932.5:c.5434G>A (PKD1) ENSP00000457132.1:n.5434G>A
ENST00000562425.1:c.125G>A (PKD1)
ENST00000568796.1:n.114G>A (PKD1)
NM_000296.3:c.10869G>A (PKD1) NP_000287.3:p.Pro3623=
NM_001009944.2:c.10872G>A (PKD1) NP_001009944.2:p.Pro3624=
XM_005255370.2:c.7827G>A (PKD1) XP_005255427.1:p.Pro2609=
XM_011522525.1:c.10950G>A (PKD1) XP_011520827.1:p.Pro3650=
XM_011522526.1:c.10947G>A (PKD1) XP_011520828.1:p.Pro3649=
XM_011522527.1:c.10932G>A (PKD1) XP_011520829.1:p.Pro3644=
XM_011522528.1:c.10926G>A (PKD1) XP_011520830.1:p.Pro3642=
XM_011522529.1:c.10923G>A (PKD1) XP_011520831.1:p.Pro3641=
XM_011522530.1:c.10896G>A (PKD1) XP_011520832.1:p.Pro3632=
XM_011522531.1:c.10878G>A (PKD1) XP_011520833.1:p.Pro3626=
XM_011522532.1:c.10824G>A (PKD1) XP_011520834.1:p.Pro3608=
XM_011522533.1:c.10743G>A (PKD1) XP_011520835.1:p.Pro3581=
XM_011522534.1:c.10686G>A (PKD1) XP_011520836.1:p.Pro3562=
XM_011522535.1:c.8772G>A (PKD1) XP_011520837.1:p.Pro2924=
XM_011522537.1:c.7950G>A (PKD1) XP_011520839.1:p.Pro2650=
XR_932867.1:n.10965G>A (PKD1)
XR_932868.1:n.10965G>A (PKD1)
XR_932869.1:n.10965G>A (PKD1)
XR_932870.1:n.10965G>A (PKD1)
XR_933000.1:n.213+676C>T (PKD1-AS1)
XR_933001.1:n.303+676C>T (PKD1-AS1)
XR_933002.1:n.212+676C>T (PKD1-AS1)
XR_933003.1:n.212+676C>T (PKD1-AS1)
NR_135175.1:n.303+676C>T (PKD1-AS1)
XM_005255370.3:c.7827G>A (PKD1) XP_005255427.1:p.Pro2609=
XM_011522528.3:c.10926G>A (PKD1) XP_011520830.1:p.Pro3642=
XM_011522529.2:c.10923G>A (PKD1) XP_011520831.1:p.Pro3641=
XM_011522537.2:c.7950G>A (PKD1) XP_011520839.1:p.Pro2650=
XM_024450298.1:c.10992G>A (PKD1) XP_024306066.1:p.Pro3664=
XM_024450299.1:c.10920G>A (PKD1) XP_024306067.1:p.Pro3640=
XM_024450300.1:c.10782G>A (PKD1) XP_024306068.1:p.Pro3594=
XM_024450301.1:c.8868G>A (PKD1) XP_024306069.1:p.Pro2956=
NM_000296.4:c.10869G>A (PKD1) NP_000287.4:p.Pro3623=
NM_001009944.3:c.10872G>A (PKD1) MANE Select NP_001009944.3:p.Pro3624=