Canonical Allele Identifier: CA2202047654

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111529C= , CM000678.2:g.2111529C=	GRCh38
NC_000016.9:g.2161530C= , CM000678.1:g.2161530C=	GRCh37
NC_000016.8:g.2101531C=	NCBI36
NG_008617.1:g.29370G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3638G= MANE Select	ENSP00000262304.4:p.Arg1213=
ENST00000262304.8:c.3638G=	ENSP00000262304.4:p.Arg1213=
ENST00000415938.7:n.310+811G=
ENST00000423118.5:c.3638G=	ENSP00000399501.1:p.Arg1213=
ENST00000468674.5:n.430+811G=
ENST00000469241.2:n.588G=
ENST00000483024.1:c.233+287G=
ENST00000483731.5:n.790+811G=
ENST00000488185.2:c.473-3171G=
ENST00000565639.6:n.773+811G=
ENST00000568591.5:c.2226+811G=	ENSP00000457162.1:n.2226+811G=
ENST00000569983.5:n.421+811G=
NM_000296.3:c.3638G=	NP_000287.3:p.Arg1213=
NM_001009944.2:c.3638G=	NP_001009944.2:p.Arg1213=
XM_005255370.2:c.593G=	XP_005255427.1:p.Arg198=
XM_011522525.1:c.3716G=	XP_011520827.1:p.Arg1239=
XM_011522526.1:c.3716G=	XP_011520828.1:p.Arg1239=
XM_011522527.1:c.3716G=	XP_011520829.1:p.Arg1239=
XM_011522528.1:c.3692G=	XP_011520830.1:p.Arg1231=
XM_011522529.1:c.3692G=	XP_011520831.1:p.Arg1231=
XM_011522530.1:c.3662G=	XP_011520832.1:p.Arg1221=
XM_011522531.1:c.3644G=	XP_011520833.1:p.Arg1215=
XM_011522532.1:c.3590G=	XP_011520834.1:p.Arg1197=
XM_011522533.1:c.3509G=	XP_011520835.1:p.Arg1170=
XM_011522534.1:c.3452G=	XP_011520836.1:p.Arg1151=
XM_011522535.1:c.1538G=	XP_011520837.1:p.Arg513=
XM_011522536.1:c.3716G=	XP_011520838.1:p.Arg1239=
XM_011522537.1:c.716G=	XP_011520839.1:p.Arg239=
XR_932867.1:n.3731G=
XR_932868.1:n.3731G=
XR_932869.1:n.3731G=
XR_932870.1:n.3731G=
XM_005255370.3:c.593G=	XP_005255427.1:p.Arg198=
XM_011522528.3:c.3692G=	XP_011520830.1:p.Arg1231=
XM_011522529.2:c.3692G=	XP_011520831.1:p.Arg1231=
XM_011522537.2:c.716G=	XP_011520839.1:p.Arg239=
XM_024450298.1:c.3758G=	XP_024306066.1:p.Arg1253=
XM_024450299.1:c.3686G=	XP_024306067.1:p.Arg1229=
XM_024450300.1:c.3548G=	XP_024306068.1:p.Arg1183=
XM_024450301.1:c.1634G=	XP_024306069.1:p.Arg545=
NM_000296.4:c.3638G=	NP_000287.4:p.Arg1213=
NM_001009944.3:c.3638G= MANE Select	NP_001009944.3:p.Arg1213=