Canonical Allele Identifier: CA394336200
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092510G>C , CM000678.2:g.2092510G>C GRCh38
NC_000016.9:g.2142511G>C , CM000678.1:g.2142511G>C GRCh37
NC_000016.8:g.2082512G>C NCBI36
NG_008617.1:g.50711C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11239C>G (PKD1) MANE Select ENSP00000262304.4:p.Pro3747Ala
ENST00000262304.8:c.11239C>G (PKD1) ENSP00000262304.4:p.Pro3747Ala
ENST00000423118.5:c.11236C>G (PKD1) ENSP00000399501.1:p.Pro3746Ala
ENST00000485120.1:n.88C>G (PKD1)
ENST00000487932.5:c.5801C>G (PKD1) ENSP00000457132.1:n.5801C>G
ENST00000562425.1:c.352C>G (PKD1)
ENST00000567355.1:n.402C>G (PKD1)
NM_000296.3:c.11236C>G (PKD1) NP_000287.3:p.Pro3746Ala
NM_001009944.2:c.11239C>G (PKD1) NP_001009944.2:p.Pro3747Ala
XM_005255370.2:c.8194C>G (PKD1) XP_005255427.1:p.Pro2732Ala
XM_011522525.1:c.11317C>G (PKD1) XP_011520827.1:p.Pro3773Ala
XM_011522526.1:c.11314C>G (PKD1) XP_011520828.1:p.Pro3772Ala
XM_011522527.1:c.11299C>G (PKD1) XP_011520829.1:p.Pro3767Ala
XM_011522528.1:c.11293C>G (PKD1) XP_011520830.1:p.Pro3765Ala
XM_011522529.1:c.11290C>G (PKD1) XP_011520831.1:p.Pro3764Ala
XM_011522530.1:c.11263C>G (PKD1) XP_011520832.1:p.Pro3755Ala
XM_011522531.1:c.11245C>G (PKD1) XP_011520833.1:p.Pro3749Ala
XM_011522532.1:c.11191C>G (PKD1) XP_011520834.1:p.Pro3731Ala
XM_011522533.1:c.11110C>G (PKD1) XP_011520835.1:p.Pro3704Ala
XM_011522534.1:c.11053C>G (PKD1) XP_011520836.1:p.Pro3685Ala
XM_011522535.1:c.9139C>G (PKD1) XP_011520837.1:p.Pro3047Ala
XM_011522537.1:c.8317C>G (PKD1) XP_011520839.1:p.Pro2773Ala
XR_932867.1:n.11332C>G (PKD1)
XR_932868.1:n.11110-322C>G (PKD1)
XR_932869.1:n.11110-322C>G (PKD1)
XR_932870.1:n.11192C>G (PKD1)
XR_933000.1:n.90-379G>C (PKD1-AS1)
XR_933001.1:n.180-379G>C (PKD1-AS1)
XR_933002.1:n.89-379G>C (PKD1-AS1)
XR_933003.1:n.89-379G>C (PKD1-AS1)
NR_135175.1:n.180-379G>C (PKD1-AS1)
XM_005255370.3:c.8194C>G (PKD1) XP_005255427.1:p.Pro2732Ala
XM_011522528.3:c.11293C>G (PKD1) XP_011520830.1:p.Pro3765Ala
XM_011522529.2:c.11290C>G (PKD1) XP_011520831.1:p.Pro3764Ala
XM_011522537.2:c.8317C>G (PKD1) XP_011520839.1:p.Pro2773Ala
XM_024450298.1:c.11359C>G (PKD1) XP_024306066.1:p.Pro3787Ala
XM_024450299.1:c.11287C>G (PKD1) XP_024306067.1:p.Pro3763Ala
XM_024450300.1:c.11149C>G (PKD1) XP_024306068.1:p.Pro3717Ala
XM_024450301.1:c.9235C>G (PKD1) XP_024306069.1:p.Pro3079Ala
NM_000296.4:c.11236C>G (PKD1) NP_000287.4:p.Pro3746Ala
NM_001009944.3:c.11239C>G (PKD1) MANE Select NP_001009944.3:p.Pro3747Ala