Canonical Allele Identifier: CA2202049800

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114579A= , CM000678.2:g.2114579A=	GRCh38
NC_000016.9:g.2164580A= , CM000678.1:g.2164580A=	GRCh37
NC_000016.8:g.2104581A=	NCBI36
NG_008617.1:g.26320T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2444T= MANE Select	ENSP00000262304.4:p.Phe815=
ENST00000262304.8:c.2444T=	ENSP00000262304.4:p.Phe815=
ENST00000423118.5:c.2444T=	ENSP00000399501.1:p.Phe815=
ENST00000488185.2:c.472+2910T=
ENST00000568591.5:c.1375T=	ENSP00000457162.1:n.1375T=
NM_000296.3:c.2444T=	NP_000287.3:p.Phe815=
NM_001009944.2:c.2444T=	NP_001009944.2:p.Phe815=
XM_011522525.1:c.2498T=	XP_011520827.1:p.Phe833=
XM_011522526.1:c.2498T=	XP_011520828.1:p.Phe833=
XM_011522527.1:c.2498T=	XP_011520829.1:p.Phe833=
XM_011522528.1:c.2498T=	XP_011520830.1:p.Phe833=
XM_011522529.1:c.2498T=	XP_011520831.1:p.Phe833=
XM_011522530.1:c.2444T=	XP_011520832.1:p.Phe815=
XM_011522531.1:c.2426T=	XP_011520833.1:p.Phe809=
XM_011522532.1:c.2372T=	XP_011520834.1:p.Phe791=
XM_011522533.1:c.2291T=	XP_011520835.1:p.Phe764=
XM_011522534.1:c.2234T=	XP_011520836.1:p.Phe745=
XM_011522535.1:c.320T=	XP_011520837.1:p.Phe107=
XM_011522536.1:c.2498T=	XP_011520838.1:p.Phe833=
XR_932867.1:n.2513T=
XR_932868.1:n.2513T=
XR_932869.1:n.2513T=
XR_932870.1:n.2513T=
XM_005255370.3:c.-606T=	XP_005255427.1:n.-606T=
XM_011522528.3:c.2498T=	XP_011520830.1:p.Phe833=
XM_011522529.2:c.2498T=	XP_011520831.1:p.Phe833=
XM_024450298.1:c.2444T=	XP_024306066.1:p.Phe815=
XM_024450299.1:c.2372T=	XP_024306067.1:p.Phe791=
XM_024450300.1:c.2234T=	XP_024306068.1:p.Phe745=
XM_024450301.1:c.320T=	XP_024306069.1:p.Phe107=
NM_000296.4:c.2444T=	NP_000287.4:p.Phe815=
NM_001009944.3:c.2444T= MANE Select	NP_001009944.3:p.Phe815=