Canonical Allele Identifier: CA7829293
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092941C>T , CM000678.2:g.2092941C>T GRCh38
NC_000016.9:g.2142942C>T , CM000678.1:g.2142942C>T GRCh37
NC_000016.8:g.2082943C>T NCBI36
NG_008617.1:g.50280G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11156+13G>A (PKD1) MANE Select ENSP00000262304.4:n.11156+13G>A
ENST00000262304.8:c.11156+13G>A (PKD1) ENSP00000262304.4:n.11156+13G>A
ENST00000423118.5:c.11153+13G>A (PKD1) ENSP00000399501.1:n.11153+13G>A
ENST00000472659.1:n.606G>A (PKD1)
ENST00000487932.5:c.5718+13G>A (PKD1) ENSP00000457132.1:n.5718+13G>A
ENST00000562425.1:c.270-349G>A (PKD1)
NM_000296.3:c.11153+13G>A (PKD1) NP_000287.3:n.11153+13G>A
NM_001009944.2:c.11156+13G>A (PKD1) NP_001009944.2:n.11156+13G>A
XM_005255370.2:c.8111+13G>A (PKD1) XP_005255427.1:n.8111+13G>A
XM_011522525.1:c.11234+13G>A (PKD1) XP_011520827.1:n.11234+13G>A
XM_011522526.1:c.11231+13G>A (PKD1) XP_011520828.1:n.11231+13G>A
XM_011522527.1:c.11216+13G>A (PKD1) XP_011520829.1:n.11216+13G>A
XM_011522528.1:c.11210+13G>A (PKD1) XP_011520830.1:n.11210+13G>A
XM_011522529.1:c.11207+13G>A (PKD1) XP_011520831.1:n.11207+13G>A
XM_011522530.1:c.11180+13G>A (PKD1) XP_011520832.1:n.11180+13G>A
XM_011522531.1:c.11162+13G>A (PKD1) XP_011520833.1:n.11162+13G>A
XM_011522532.1:c.11108+13G>A (PKD1) XP_011520834.1:n.11108+13G>A
XM_011522533.1:c.11027+13G>A (PKD1) XP_011520835.1:n.11027+13G>A
XM_011522534.1:c.10970+13G>A (PKD1) XP_011520836.1:n.10970+13G>A
XM_011522535.1:c.9056+13G>A (PKD1) XP_011520837.1:n.9056+13G>A
XM_011522537.1:c.8234+13G>A (PKD1) XP_011520839.1:n.8234+13G>A
XR_932867.1:n.11249+13G>A (PKD1)
XR_932868.1:n.11109+603G>A (PKD1)
XR_932869.1:n.11109+603G>A (PKD1)
XR_932870.1:n.11110-349G>A (PKD1)
XR_933000.1:n.142C>T (PKD1-AS1)
XR_933001.1:n.232C>T (PKD1-AS1)
XR_933002.1:n.141C>T (PKD1-AS1)
XR_933003.1:n.141C>T (PKD1-AS1)
NR_135175.1:n.232C>T (PKD1-AS1)
XM_005255370.3:c.8111+13G>A (PKD1) XP_005255427.1:n.8111+13G>A
XM_011522528.3:c.11210+13G>A (PKD1) XP_011520830.1:n.11210+13G>A
XM_011522529.2:c.11207+13G>A (PKD1) XP_011520831.1:n.11207+13G>A
XM_011522537.2:c.8234+13G>A (PKD1) XP_011520839.1:n.8234+13G>A
XM_024450298.1:c.11276+13G>A (PKD1) XP_024306066.1:n.11276+13G>A
XM_024450299.1:c.11204+13G>A (PKD1) XP_024306067.1:n.11204+13G>A
XM_024450300.1:c.11066+13G>A (PKD1) XP_024306068.1:n.11066+13G>A
XM_024450301.1:c.9152+13G>A (PKD1) XP_024306069.1:n.9152+13G>A
NM_000296.4:c.11153+13G>A (PKD1) NP_000287.4:n.11153+13G>A
NM_001009944.3:c.11156+13G>A (PKD1) MANE Select NP_001009944.3:n.11156+13G>A