Canonical Allele Identifier: CA2202046458

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109724T= , CM000678.2:g.2109724T=	GRCh38
NC_000016.9:g.2159725T= , CM000678.1:g.2159725T=	GRCh37
NC_000016.8:g.2099726T=	NCBI36
NG_008617.1:g.31175A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5443A= MANE Select	ENSP00000262304.4:p.Ser1815=
ENST00000262304.8:c.5443A=	ENSP00000262304.4:p.Ser1815=
ENST00000415938.7:n.310+2616A=
ENST00000423118.5:c.5443A=	ENSP00000399501.1:p.Ser1815=
ENST00000468674.5:n.431-374A=
ENST00000483024.1:c.233+2092A=
ENST00000483731.5:n.790+2616A=
ENST00000487932.5:c.130A=	ENSP00000457132.1:p.Ser44=
ENST00000488185.2:c.473-1366A=
ENST00000565639.6:n.773+2616A=
ENST00000568591.5:c.2226+2616A=	ENSP00000457162.1:n.2226+2616A=
ENST00000569983.5:n.421+2616A=
NM_000296.3:c.5443A=	NP_000287.3:p.Ser1815=
NM_001009944.2:c.5443A=	NP_001009944.2:p.Ser1815=
XM_005255370.2:c.2398A=	XP_005255427.1:p.Ser800=
XM_011522525.1:c.5521A=	XP_011520827.1:p.Ser1841=
XM_011522526.1:c.5521A=	XP_011520828.1:p.Ser1841=
XM_011522527.1:c.5521A=	XP_011520829.1:p.Ser1841=
XM_011522528.1:c.5497A=	XP_011520830.1:p.Ser1833=
XM_011522529.1:c.5497A=	XP_011520831.1:p.Ser1833=
XM_011522530.1:c.5467A=	XP_011520832.1:p.Ser1823=
XM_011522531.1:c.5449A=	XP_011520833.1:p.Ser1817=
XM_011522532.1:c.5395A=	XP_011520834.1:p.Ser1799=
XM_011522533.1:c.5314A=	XP_011520835.1:p.Ser1772=
XM_011522534.1:c.5257A=	XP_011520836.1:p.Ser1753=
XM_011522535.1:c.3343A=	XP_011520837.1:p.Ser1115=
XM_011522536.1:c.5521A=	XP_011520838.1:p.Ser1841=
XM_011522537.1:c.2521A=	XP_011520839.1:p.Ser841=
XR_932867.1:n.5536A=
XR_932868.1:n.5536A=
XR_932869.1:n.5536A=
XR_932870.1:n.5536A=
XM_005255370.3:c.2398A=	XP_005255427.1:p.Ser800=
XM_011522528.3:c.5497A=	XP_011520830.1:p.Ser1833=
XM_011522529.2:c.5497A=	XP_011520831.1:p.Ser1833=
XM_011522537.2:c.2521A=	XP_011520839.1:p.Ser841=
XM_024450298.1:c.5563A=	XP_024306066.1:p.Ser1855=
XM_024450299.1:c.5491A=	XP_024306067.1:p.Ser1831=
XM_024450300.1:c.5353A=	XP_024306068.1:p.Ser1785=
XM_024450301.1:c.3439A=	XP_024306069.1:p.Ser1147=
NM_000296.4:c.5443A=	NP_000287.4:p.Ser1815=
NM_001009944.3:c.5443A= MANE Select	NP_001009944.3:p.Ser1815=