Canonical Allele Identifier: CA2202046265
Community Standard Title: NM_001009944.3(PKD1):c.5764C= (p.Gln1922=)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2109403G= , CM000678.2:g.2109403G= GRCh38
NC_000016.9:g.2159404G= , CM000678.1:g.2159404G= GRCh37
NC_000016.8:g.2099405G= NCBI36
NG_008617.1:g.31496C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.5764C= MANE Select NP_001009944.3:p.Gln1922=
ENST00000262304.9:c.5764C= MANE Select ENSP00000262304.4:p.Gln1922=
NM_000296.3:c.5764C= NP_000287.3:p.Gln1922=
NM_000296.4:c.5764C= NP_000287.4:p.Gln1922=
NM_001009944.2:c.5764C= NP_001009944.2:p.Gln1922=
ENST00000262304.8:c.5764C= ENSP00000262304.4:p.Gln1922=
ENST00000415938.7:n.311-2455C=
ENST00000423118.5:c.5764C= ENSP00000399501.1:p.Gln1922=
ENST00000468674.5:n.431-53C=
ENST00000483024.1:c.233+2413C=
ENST00000483731.5:n.791-2455C=
ENST00000487932.5:c.451C= ENSP00000457132.1:p.Gln151=
ENST00000488185.2:c.473-1045C=
ENST00000565639.6:n.774-2455C=
ENST00000568591.5:c.2227-2455C= ENSP00000457162.1:n.2227-2455C=
ENST00000569983.5:n.422-2455C=
XM_005255370.2:c.2719C= XP_005255427.1:p.Gln907=
XM_005255370.3:c.2719C= XP_005255427.1:p.Gln907=
XM_011522525.1:c.5842C= XP_011520827.1:p.Gln1948=
XM_011522526.1:c.5842C= XP_011520828.1:p.Gln1948=
XM_011522527.1:c.5842C= XP_011520829.1:p.Gln1948=
XM_011522528.1:c.5818C= XP_011520830.1:p.Gln1940=
XM_011522528.3:c.5818C= XP_011520830.1:p.Gln1940=
XM_011522529.1:c.5818C= XP_011520831.1:p.Gln1940=
XM_011522529.2:c.5818C= XP_011520831.1:p.Gln1940=
XM_011522530.1:c.5788C= XP_011520832.1:p.Gln1930=
XM_011522531.1:c.5770C= XP_011520833.1:p.Gln1924=
XM_011522532.1:c.5716C= XP_011520834.1:p.Gln1906=
XM_011522533.1:c.5635C= XP_011520835.1:p.Gln1879=
XM_011522534.1:c.5578C= XP_011520836.1:p.Gln1860=
XM_011522535.1:c.3664C= XP_011520837.1:p.Gln1222=
XM_011522536.1:c.5842C= XP_011520838.1:p.Gln1948=
XM_011522537.1:c.2842C= XP_011520839.1:p.Gln948=
XM_011522537.2:c.2842C= XP_011520839.1:p.Gln948=
XM_024450298.1:c.5884C= XP_024306066.1:p.Gln1962=
XM_024450299.1:c.5812C= XP_024306067.1:p.Gln1938=
XM_024450300.1:c.5674C= XP_024306068.1:p.Gln1892=
XM_024450301.1:c.3760C= XP_024306069.1:p.Gln1254=
XR_932867.1:n.5857C=
XR_932868.1:n.5857C=
XR_932869.1:n.5857C=
XR_932870.1:n.5857C=