Canonical Allele Identifier: CA2202051299
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2116825C= , CM000678.2:g.2116825C= GRCh38
NC_000016.9:g.2166826C= , CM000678.1:g.2166826C= GRCh37
NC_000016.8:g.2106827C= NCBI36
NG_008617.1:g.24074G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.1606+8G= MANE Select ENSP00000262304.4:n.1606+8G=
ENST00000262304.8:c.1606+8G= ENSP00000262304.4:n.1606+8G=
ENST00000423118.5:c.1606+8G= ENSP00000399501.1:n.1606+8G=
ENST00000488185.2:c.472+664G=
ENST00000568591.5:c.537+8G= ENSP00000457162.1:n.537+8G=
ENST00000570150.1:n.519-181G=
NM_000296.3:c.1606+8G= NP_000287.3:n.1606+8G=
NM_001009944.2:c.1606+8G= NP_001009944.2:n.1606+8G=
XM_011522525.1:c.1660+8G= XP_011520827.1:n.1660+8G=
XM_011522526.1:c.1660+8G= XP_011520828.1:n.1660+8G=
XM_011522527.1:c.1660+8G= XP_011520829.1:n.1660+8G=
XM_011522528.1:c.1660+8G= XP_011520830.1:n.1660+8G=
XM_011522529.1:c.1660+8G= XP_011520831.1:n.1660+8G=
XM_011522530.1:c.1606+8G= XP_011520832.1:n.1606+8G=
XM_011522531.1:c.1588+8G= XP_011520833.1:n.1588+8G=
XM_011522532.1:c.1534+8G= XP_011520834.1:n.1534+8G=
XM_011522533.1:c.1453+8G= XP_011520835.1:n.1453+8G=
XM_011522534.1:c.1396+8G= XP_011520836.1:n.1396+8G=
XM_011522536.1:c.1660+8G= XP_011520838.1:n.1660+8G=
XR_932867.1:n.1675+8G=
XR_932868.1:n.1675+8G=
XR_932869.1:n.1675+8G=
XR_932870.1:n.1675+8G=
XM_011522528.3:c.1660+8G= XP_011520830.1:n.1660+8G=
XM_011522529.2:c.1660+8G= XP_011520831.1:n.1660+8G=
XM_024450298.1:c.1606+8G= XP_024306066.1:n.1606+8G=
XM_024450299.1:c.1534+8G= XP_024306067.1:n.1534+8G=
XM_024450300.1:c.1396+8G= XP_024306068.1:n.1396+8G=
NM_000296.4:c.1606+8G= NP_000287.4:n.1606+8G=
NM_001009944.3:c.1606+8G= MANE Select NP_001009944.3:n.1606+8G=