Canonical Allele Identifier: CA2202046861
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2110321C= , CM000678.2:g.2110321C= GRCh38
NC_000016.9:g.2160322C= , CM000678.1:g.2160322C= GRCh37
NC_000016.8:g.2100323C= NCBI36
NG_008617.1:g.30578G=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.4846G= MANE Select NP_001009944.3:p.Glu1616=
ENST00000262304.9:c.4846G= MANE Select ENSP00000262304.4:p.Glu1616=
NM_000296.3:c.4846G= NP_000287.3:p.Glu1616=
NM_000296.4:c.4846G= NP_000287.4:p.Glu1616=
NM_001009944.2:c.4846G= NP_001009944.2:p.Glu1616=
ENST00000262304.8:c.4846G= ENSP00000262304.4:p.Glu1616=
ENST00000415938.7:n.310+2019G=
ENST00000423118.5:c.4846G= ENSP00000399501.1:p.Glu1616=
ENST00000468674.5:n.431-971G=
ENST00000483024.1:c.233+1495G=
ENST00000483731.5:n.790+2019G=
ENST00000488185.2:c.473-1963G=
ENST00000565639.6:n.773+2019G=
ENST00000568591.5:c.2226+2019G= ENSP00000457162.1:n.2226+2019G=
ENST00000569983.5:n.421+2019G=
XM_005255370.2:c.1801G= XP_005255427.1:p.Glu601=
XM_005255370.3:c.1801G= XP_005255427.1:p.Glu601=
XM_011522525.1:c.4924G= XP_011520827.1:p.Glu1642=
XM_011522526.1:c.4924G= XP_011520828.1:p.Glu1642=
XM_011522527.1:c.4924G= XP_011520829.1:p.Glu1642=
XM_011522528.1:c.4900G= XP_011520830.1:p.Glu1634=
XM_011522528.3:c.4900G= XP_011520830.1:p.Glu1634=
XM_011522529.1:c.4900G= XP_011520831.1:p.Glu1634=
XM_011522529.2:c.4900G= XP_011520831.1:p.Glu1634=
XM_011522530.1:c.4870G= XP_011520832.1:p.Glu1624=
XM_011522531.1:c.4852G= XP_011520833.1:p.Glu1618=
XM_011522532.1:c.4798G= XP_011520834.1:p.Glu1600=
XM_011522533.1:c.4717G= XP_011520835.1:p.Glu1573=
XM_011522534.1:c.4660G= XP_011520836.1:p.Glu1554=
XM_011522535.1:c.2746G= XP_011520837.1:p.Glu916=
XM_011522536.1:c.4924G= XP_011520838.1:p.Glu1642=
XM_011522537.1:c.1924G= XP_011520839.1:p.Glu642=
XM_011522537.2:c.1924G= XP_011520839.1:p.Glu642=
XM_024450298.1:c.4966G= XP_024306066.1:p.Glu1656=
XM_024450299.1:c.4894G= XP_024306067.1:p.Glu1632=
XM_024450300.1:c.4756G= XP_024306068.1:p.Glu1586=
XM_024450301.1:c.2842G= XP_024306069.1:p.Glu948=
XR_932867.1:n.4939G=
XR_932868.1:n.4939G=
XR_932869.1:n.4939G=
XR_932870.1:n.4939G=