Canonical Allele Identifier: CA2202035693
Gene: PKD1 HGNC NCBI
MIR6511B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106672C= , CM000678.2:g.2106672C= GRCh38
NC_000016.9:g.2156673C= , CM000678.1:g.2156673C= GRCh37
NC_000016.8:g.2096674C= NCBI36
NG_008617.1:g.34227G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7215G= (PKD1) MANE Select ENSP00000262304.4:p.Trp2405=
ENST00000262304.8:c.7215G= (PKD1) ENSP00000262304.4:p.Trp2405=
ENST00000415938.7:n.460G= (PKD1)
ENST00000423118.5:c.7215G= (PKD1) ENSP00000399501.1:p.Trp2405=
ENST00000483024.1:c.383G= (PKD1)
ENST00000483558.5:n.274G= (PKD1)
ENST00000483731.5:n.940G= (PKD1)
ENST00000486339.6:n.961G= (PKD1)
ENST00000487932.5:c.1902G= (PKD1) ENSP00000457132.1:p.Trp634=
ENST00000496574.6:n.1218G= (PKD1)
ENST00000565639.6:n.923G= (PKD1)
ENST00000568591.5:c.2376G= (PKD1) ENSP00000457162.1:n.2376G=
ENST00000569983.5:n.571G= (PKD1)
NM_000296.3:c.7215G= (PKD1) NP_000287.3:p.Trp2405=
NM_001009944.2:c.7215G= (PKD1) NP_001009944.2:p.Trp2405=
NR_106775.1:n.82G= (MIR6511B1)
XM_005255370.2:c.4170G= (PKD1) XP_005255427.1:p.Trp1390=
XM_011522525.1:c.7293G= (PKD1) XP_011520827.1:p.Trp2431=
XM_011522526.1:c.7293G= (PKD1) XP_011520828.1:p.Trp2431=
XM_011522527.1:c.7293G= (PKD1) XP_011520829.1:p.Trp2431=
XM_011522528.1:c.7269G= (PKD1) XP_011520830.1:p.Trp2423=
XM_011522529.1:c.7269G= (PKD1) XP_011520831.1:p.Trp2423=
XM_011522530.1:c.7239G= (PKD1) XP_011520832.1:p.Trp2413=
XM_011522531.1:c.7221G= (PKD1) XP_011520833.1:p.Trp2407=
XM_011522532.1:c.7167G= (PKD1) XP_011520834.1:p.Trp2389=
XM_011522533.1:c.7086G= (PKD1) XP_011520835.1:p.Trp2362=
XM_011522534.1:c.7029G= (PKD1) XP_011520836.1:p.Trp2343=
XM_011522535.1:c.5115G= (PKD1) XP_011520837.1:p.Trp1705=
XM_011522536.1:c.7293G= (PKD1) XP_011520838.1:p.Trp2431=
XM_011522537.1:c.4293G= (PKD1) XP_011520839.1:p.Trp1431=
XR_932867.1:n.7308G= (PKD1)
XR_932868.1:n.7308G= (PKD1)
XR_932869.1:n.7308G= (PKD1)
XR_932870.1:n.7308G= (PKD1)
XM_005255370.3:c.4170G= (PKD1) XP_005255427.1:p.Trp1390=
XM_011522528.3:c.7269G= (PKD1) XP_011520830.1:p.Trp2423=
XM_011522529.2:c.7269G= (PKD1) XP_011520831.1:p.Trp2423=
XM_011522537.2:c.4293G= (PKD1) XP_011520839.1:p.Trp1431=
XM_024450298.1:c.7335G= (PKD1) XP_024306066.1:p.Trp2445=
XM_024450299.1:c.7263G= (PKD1) XP_024306067.1:p.Trp2421=
XM_024450300.1:c.7125G= (PKD1) XP_024306068.1:p.Trp2375=
XM_024450301.1:c.5211G= (PKD1) XP_024306069.1:p.Trp1737=
NM_000296.4:c.7215G= (PKD1) NP_000287.4:p.Trp2405=
NM_001009944.3:c.7215G= (PKD1) MANE Select NP_001009944.3:p.Trp2405=