Canonical Allele Identifier: CA2202047726

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111632G= , CM000678.2:g.2111632G=	GRCh38
NC_000016.9:g.2161633G= , CM000678.1:g.2161633G=	GRCh37
NC_000016.8:g.2101634G=	NCBI36
NG_008617.1:g.29267C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3535C= MANE Select	ENSP00000262304.4:p.His1179=
ENST00000262304.8:c.3535C=	ENSP00000262304.4:p.His1179=
ENST00000415938.7:n.310+708C=
ENST00000423118.5:c.3535C=	ENSP00000399501.1:p.His1179=
ENST00000468674.5:n.430+708C=
ENST00000469241.2:n.485C=
ENST00000483024.1:c.233+184C=
ENST00000483731.5:n.790+708C=
ENST00000488185.2:c.473-3274C=
ENST00000565639.6:n.773+708C=
ENST00000568591.5:c.2226+708C=	ENSP00000457162.1:n.2226+708C=
ENST00000569983.5:n.421+708C=
NM_000296.3:c.3535C=	NP_000287.3:p.His1179=
NM_001009944.2:c.3535C=	NP_001009944.2:p.His1179=
XM_005255370.2:c.490C=	XP_005255427.1:p.His164=
XM_011522525.1:c.3613C=	XP_011520827.1:p.His1205=
XM_011522526.1:c.3613C=	XP_011520828.1:p.His1205=
XM_011522527.1:c.3613C=	XP_011520829.1:p.His1205=
XM_011522528.1:c.3589C=	XP_011520830.1:p.His1197=
XM_011522529.1:c.3589C=	XP_011520831.1:p.His1197=
XM_011522530.1:c.3559C=	XP_011520832.1:p.His1187=
XM_011522531.1:c.3541C=	XP_011520833.1:p.His1181=
XM_011522532.1:c.3487C=	XP_011520834.1:p.His1163=
XM_011522533.1:c.3406C=	XP_011520835.1:p.His1136=
XM_011522534.1:c.3349C=	XP_011520836.1:p.His1117=
XM_011522535.1:c.1435C=	XP_011520837.1:p.His479=
XM_011522536.1:c.3613C=	XP_011520838.1:p.His1205=
XM_011522537.1:c.613C=	XP_011520839.1:p.His205=
XR_932867.1:n.3628C=
XR_932868.1:n.3628C=
XR_932869.1:n.3628C=
XR_932870.1:n.3628C=
XM_005255370.3:c.490C=	XP_005255427.1:p.His164=
XM_011522528.3:c.3589C=	XP_011520830.1:p.His1197=
XM_011522529.2:c.3589C=	XP_011520831.1:p.His1197=
XM_011522537.2:c.613C=	XP_011520839.1:p.His205=
XM_024450298.1:c.3655C=	XP_024306066.1:p.His1219=
XM_024450299.1:c.3583C=	XP_024306067.1:p.His1195=
XM_024450300.1:c.3445C=	XP_024306068.1:p.His1149=
XM_024450301.1:c.1531C=	XP_024306069.1:p.His511=
NM_000296.4:c.3535C=	NP_000287.4:p.His1179=
NM_001009944.3:c.3535C= MANE Select	NP_001009944.3:p.His1179=