Canonical Allele Identifier: CA2202049776

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114543A= , CM000678.2:g.2114543A=	GRCh38
NC_000016.9:g.2164544A= , CM000678.1:g.2164544A=	GRCh37
NC_000016.8:g.2104545A=	NCBI36
NG_008617.1:g.26356T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2480T= MANE Select	ENSP00000262304.4:p.Ile827=
ENST00000262304.8:c.2480T=	ENSP00000262304.4:p.Ile827=
ENST00000423118.5:c.2480T=	ENSP00000399501.1:p.Ile827=
ENST00000488185.2:c.472+2946T=
ENST00000568591.5:c.1411T=	ENSP00000457162.1:n.1411T=
NM_000296.3:c.2480T=	NP_000287.3:p.Ile827=
NM_001009944.2:c.2480T=	NP_001009944.2:p.Ile827=
XM_011522525.1:c.2534T=	XP_011520827.1:p.Ile845=
XM_011522526.1:c.2534T=	XP_011520828.1:p.Ile845=
XM_011522527.1:c.2534T=	XP_011520829.1:p.Ile845=
XM_011522528.1:c.2534T=	XP_011520830.1:p.Ile845=
XM_011522529.1:c.2534T=	XP_011520831.1:p.Ile845=
XM_011522530.1:c.2480T=	XP_011520832.1:p.Ile827=
XM_011522531.1:c.2462T=	XP_011520833.1:p.Ile821=
XM_011522532.1:c.2408T=	XP_011520834.1:p.Ile803=
XM_011522533.1:c.2327T=	XP_011520835.1:p.Ile776=
XM_011522534.1:c.2270T=	XP_011520836.1:p.Ile757=
XM_011522535.1:c.356T=	XP_011520837.1:p.Ile119=
XM_011522536.1:c.2534T=	XP_011520838.1:p.Ile845=
XR_932867.1:n.2549T=
XR_932868.1:n.2549T=
XR_932869.1:n.2549T=
XR_932870.1:n.2549T=
XM_005255370.3:c.-570T=	XP_005255427.1:n.-570T=
XM_011522528.3:c.2534T=	XP_011520830.1:p.Ile845=
XM_011522529.2:c.2534T=	XP_011520831.1:p.Ile845=
XM_024450298.1:c.2480T=	XP_024306066.1:p.Ile827=
XM_024450299.1:c.2408T=	XP_024306067.1:p.Ile803=
XM_024450300.1:c.2270T=	XP_024306068.1:p.Ile757=
XM_024450301.1:c.356T=	XP_024306069.1:p.Ile119=
NM_000296.4:c.2480T=	NP_000287.4:p.Ile827=
NM_001009944.3:c.2480T= MANE Select	NP_001009944.3:p.Ile827=