Canonical Allele Identifier: CA394336297
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092545A>T , CM000678.2:g.2092545A>T GRCh38
NC_000016.9:g.2142546A>T , CM000678.1:g.2142546A>T GRCh37
NC_000016.8:g.2082547A>T NCBI36
NG_008617.1:g.50676T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11204T>A (PKD1) MANE Select ENSP00000262304.4:p.Val3735Asp
ENST00000262304.8:c.11204T>A (PKD1) ENSP00000262304.4:p.Val3735Asp
ENST00000423118.5:c.11201T>A (PKD1) ENSP00000399501.1:p.Val3734Asp
ENST00000485120.1:n.53T>A (PKD1)
ENST00000487932.5:c.5766T>A (PKD1) ENSP00000457132.1:n.5766T>A
ENST00000562425.1:c.317T>A (PKD1)
ENST00000567355.1:n.367T>A (PKD1)
NM_000296.3:c.11201T>A (PKD1) NP_000287.3:p.Val3734Asp
NM_001009944.2:c.11204T>A (PKD1) NP_001009944.2:p.Val3735Asp
XM_005255370.2:c.8159T>A (PKD1) XP_005255427.1:p.Val2720Asp
XM_011522525.1:c.11282T>A (PKD1) XP_011520827.1:p.Val3761Asp
XM_011522526.1:c.11279T>A (PKD1) XP_011520828.1:p.Val3760Asp
XM_011522527.1:c.11264T>A (PKD1) XP_011520829.1:p.Val3755Asp
XM_011522528.1:c.11258T>A (PKD1) XP_011520830.1:p.Val3753Asp
XM_011522529.1:c.11255T>A (PKD1) XP_011520831.1:p.Val3752Asp
XM_011522530.1:c.11228T>A (PKD1) XP_011520832.1:p.Val3743Asp
XM_011522531.1:c.11210T>A (PKD1) XP_011520833.1:p.Val3737Asp
XM_011522532.1:c.11156T>A (PKD1) XP_011520834.1:p.Val3719Asp
XM_011522533.1:c.11075T>A (PKD1) XP_011520835.1:p.Val3692Asp
XM_011522534.1:c.11018T>A (PKD1) XP_011520836.1:p.Val3673Asp
XM_011522535.1:c.9104T>A (PKD1) XP_011520837.1:p.Val3035Asp
XM_011522537.1:c.8282T>A (PKD1) XP_011520839.1:p.Val2761Asp
XR_932867.1:n.11297T>A (PKD1)
XR_932868.1:n.11110-357T>A (PKD1)
XR_932869.1:n.11110-357T>A (PKD1)
XR_932870.1:n.11157T>A (PKD1)
XR_933000.1:n.90-344A>T (PKD1-AS1)
XR_933001.1:n.180-344A>T (PKD1-AS1)
XR_933002.1:n.89-344A>T (PKD1-AS1)
XR_933003.1:n.89-344A>T (PKD1-AS1)
NR_135175.1:n.180-344A>T (PKD1-AS1)
XM_005255370.3:c.8159T>A (PKD1) XP_005255427.1:p.Val2720Asp
XM_011522528.3:c.11258T>A (PKD1) XP_011520830.1:p.Val3753Asp
XM_011522529.2:c.11255T>A (PKD1) XP_011520831.1:p.Val3752Asp
XM_011522537.2:c.8282T>A (PKD1) XP_011520839.1:p.Val2761Asp
XM_024450298.1:c.11324T>A (PKD1) XP_024306066.1:p.Val3775Asp
XM_024450299.1:c.11252T>A (PKD1) XP_024306067.1:p.Val3751Asp
XM_024450300.1:c.11114T>A (PKD1) XP_024306068.1:p.Val3705Asp
XM_024450301.1:c.9200T>A (PKD1) XP_024306069.1:p.Val3067Asp
NM_000296.4:c.11201T>A (PKD1) NP_000287.4:p.Val3734Asp
NM_001009944.3:c.11204T>A (PKD1) MANE Select NP_001009944.3:p.Val3735Asp