Canonical Allele Identifier: CA2202035597

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106654G= , CM000678.2:g.2106654G=	GRCh38
NC_000016.9:g.2156655G= , CM000678.1:g.2156655G=	GRCh37
NC_000016.8:g.2096656G=	NCBI36
NG_008617.1:g.34245C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7233C= MANE Select	ENSP00000262304.4:p.Ser2411=
ENST00000262304.8:c.7233C=	ENSP00000262304.4:p.Ser2411=
ENST00000415938.7:n.478C=
ENST00000423118.5:c.7233C=	ENSP00000399501.1:p.Ser2411=
ENST00000483024.1:c.401C=
ENST00000483558.5:n.292C=
ENST00000483731.5:n.958C=
ENST00000486339.6:n.979C=
ENST00000487932.5:c.1920C=	ENSP00000457132.1:p.Ser640=
ENST00000496574.6:n.1236C=
ENST00000565639.6:n.941C=
ENST00000568591.5:c.2394C=	ENSP00000457162.1:n.2394C=
ENST00000569983.5:n.589C=
NM_000296.3:c.7233C=	NP_000287.3:p.Ser2411=
NM_001009944.2:c.7233C=	NP_001009944.2:p.Ser2411=
XM_005255370.2:c.4188C=	XP_005255427.1:p.Ser1396=
XM_011522525.1:c.7311C=	XP_011520827.1:p.Ser2437=
XM_011522526.1:c.7311C=	XP_011520828.1:p.Ser2437=
XM_011522527.1:c.7311C=	XP_011520829.1:p.Ser2437=
XM_011522528.1:c.7287C=	XP_011520830.1:p.Ser2429=
XM_011522529.1:c.7287C=	XP_011520831.1:p.Ser2429=
XM_011522530.1:c.7257C=	XP_011520832.1:p.Ser2419=
XM_011522531.1:c.7239C=	XP_011520833.1:p.Ser2413=
XM_011522532.1:c.7185C=	XP_011520834.1:p.Ser2395=
XM_011522533.1:c.7104C=	XP_011520835.1:p.Ser2368=
XM_011522534.1:c.7047C=	XP_011520836.1:p.Ser2349=
XM_011522535.1:c.5133C=	XP_011520837.1:p.Ser1711=
XM_011522536.1:c.7311C=	XP_011520838.1:p.Ser2437=
XM_011522537.1:c.4311C=	XP_011520839.1:p.Ser1437=
XR_932867.1:n.7326C=
XR_932868.1:n.7326C=
XR_932869.1:n.7326C=
XR_932870.1:n.7326C=
XM_005255370.3:c.4188C=	XP_005255427.1:p.Ser1396=
XM_011522528.3:c.7287C=	XP_011520830.1:p.Ser2429=
XM_011522529.2:c.7287C=	XP_011520831.1:p.Ser2429=
XM_011522537.2:c.4311C=	XP_011520839.1:p.Ser1437=
XM_024450298.1:c.7353C=	XP_024306066.1:p.Ser2451=
XM_024450299.1:c.7281C=	XP_024306067.1:p.Ser2427=
XM_024450300.1:c.7143C=	XP_024306068.1:p.Ser2381=
XM_024450301.1:c.5229C=	XP_024306069.1:p.Ser1743=
NM_000296.4:c.7233C=	NP_000287.4:p.Ser2411=
NM_001009944.3:c.7233C= MANE Select	NP_001009944.3:p.Ser2411=