Canonical Allele Identifier: CA394378335
Community Standard Title: NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2110102C>A , CM000678.2:g.2110102C>A GRCh38
NC_000016.9:g.2160103C>A , CM000678.1:g.2160103C>A GRCh37
NC_000016.8:g.2100104C>A NCBI36
NG_008617.1:g.30797G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.5065G>T MANE Select NP_001009944.3:p.Glu1689Ter
ENST00000262304.9:c.5065G>T MANE Select ENSP00000262304.4:p.Glu1689Ter
NM_000296.3:c.5065G>T NP_000287.3:p.Glu1689Ter
NM_000296.4:c.5065G>T NP_000287.4:p.Glu1689Ter
NM_001009944.2:c.5065G>T NP_001009944.2:p.Glu1689Ter
ENST00000262304.8:c.5065G>T ENSP00000262304.4:p.Glu1689Ter
ENST00000415938.7:n.310+2238G>T
ENST00000423118.5:c.5065G>T ENSP00000399501.1:p.Glu1689Ter
ENST00000468674.5:n.431-752G>T
ENST00000483024.1:c.233+1714G>T
ENST00000483731.5:n.790+2238G>T
ENST00000488185.2:c.473-1744G>T
ENST00000565639.6:n.773+2238G>T
ENST00000568591.5:c.2226+2238G>T ENSP00000457162.1:n.2226+2238G>T
ENST00000569983.5:n.421+2238G>T
XM_005255370.2:c.2020G>T XP_005255427.1:p.Glu674Ter
XM_005255370.3:c.2020G>T XP_005255427.1:p.Glu674Ter
XM_011522525.1:c.5143G>T XP_011520827.1:p.Glu1715Ter
XM_011522526.1:c.5143G>T XP_011520828.1:p.Glu1715Ter
XM_011522527.1:c.5143G>T XP_011520829.1:p.Glu1715Ter
XM_011522528.1:c.5119G>T XP_011520830.1:p.Glu1707Ter
XM_011522528.3:c.5119G>T XP_011520830.1:p.Glu1707Ter
XM_011522529.1:c.5119G>T XP_011520831.1:p.Glu1707Ter
XM_011522529.2:c.5119G>T XP_011520831.1:p.Glu1707Ter
XM_011522530.1:c.5089G>T XP_011520832.1:p.Glu1697Ter
XM_011522531.1:c.5071G>T XP_011520833.1:p.Glu1691Ter
XM_011522532.1:c.5017G>T XP_011520834.1:p.Glu1673Ter
XM_011522533.1:c.4936G>T XP_011520835.1:p.Glu1646Ter
XM_011522534.1:c.4879G>T XP_011520836.1:p.Glu1627Ter
XM_011522535.1:c.2965G>T XP_011520837.1:p.Glu989Ter
XM_011522536.1:c.5143G>T XP_011520838.1:p.Glu1715Ter
XM_011522537.1:c.2143G>T XP_011520839.1:p.Glu715Ter
XM_011522537.2:c.2143G>T XP_011520839.1:p.Glu715Ter
XM_024450298.1:c.5185G>T XP_024306066.1:p.Glu1729Ter
XM_024450299.1:c.5113G>T XP_024306067.1:p.Glu1705Ter
XM_024450300.1:c.4975G>T XP_024306068.1:p.Glu1659Ter
XM_024450301.1:c.3061G>T XP_024306069.1:p.Glu1021Ter
XR_932867.1:n.5158G>T
XR_932868.1:n.5158G>T
XR_932869.1:n.5158G>T
XR_932870.1:n.5158G>T