Canonical Allele Identifier: CA2202047749

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111662C= , CM000678.2:g.2111662C=	GRCh38
NC_000016.9:g.2161663C= , CM000678.1:g.2161663C=	GRCh37
NC_000016.8:g.2101664C=	NCBI36
NG_008617.1:g.29237G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3505G= MANE Select	ENSP00000262304.4:p.Val1169=
ENST00000262304.8:c.3505G=	ENSP00000262304.4:p.Val1169=
ENST00000415938.7:n.310+678G=
ENST00000423118.5:c.3505G=	ENSP00000399501.1:p.Val1169=
ENST00000468674.5:n.430+678G=
ENST00000469241.2:n.455G=
ENST00000483024.1:c.233+154G=
ENST00000483731.5:n.790+678G=
ENST00000488185.2:c.473-3304G=
ENST00000565639.6:n.773+678G=
ENST00000568591.5:c.2226+678G=	ENSP00000457162.1:n.2226+678G=
ENST00000569983.5:n.421+678G=
NM_000296.3:c.3505G=	NP_000287.3:p.Val1169=
NM_001009944.2:c.3505G=	NP_001009944.2:p.Val1169=
XM_005255370.2:c.460G=	XP_005255427.1:p.Val154=
XM_011522525.1:c.3583G=	XP_011520827.1:p.Val1195=
XM_011522526.1:c.3583G=	XP_011520828.1:p.Val1195=
XM_011522527.1:c.3583G=	XP_011520829.1:p.Val1195=
XM_011522528.1:c.3559G=	XP_011520830.1:p.Val1187=
XM_011522529.1:c.3559G=	XP_011520831.1:p.Val1187=
XM_011522530.1:c.3529G=	XP_011520832.1:p.Val1177=
XM_011522531.1:c.3511G=	XP_011520833.1:p.Val1171=
XM_011522532.1:c.3457G=	XP_011520834.1:p.Val1153=
XM_011522533.1:c.3376G=	XP_011520835.1:p.Val1126=
XM_011522534.1:c.3319G=	XP_011520836.1:p.Val1107=
XM_011522535.1:c.1405G=	XP_011520837.1:p.Val469=
XM_011522536.1:c.3583G=	XP_011520838.1:p.Val1195=
XM_011522537.1:c.583G=	XP_011520839.1:p.Val195=
XR_932867.1:n.3598G=
XR_932868.1:n.3598G=
XR_932869.1:n.3598G=
XR_932870.1:n.3598G=
XM_005255370.3:c.460G=	XP_005255427.1:p.Val154=
XM_011522528.3:c.3559G=	XP_011520830.1:p.Val1187=
XM_011522529.2:c.3559G=	XP_011520831.1:p.Val1187=
XM_011522537.2:c.583G=	XP_011520839.1:p.Val195=
XM_024450298.1:c.3625G=	XP_024306066.1:p.Val1209=
XM_024450299.1:c.3553G=	XP_024306067.1:p.Val1185=
XM_024450300.1:c.3415G=	XP_024306068.1:p.Val1139=
XM_024450301.1:c.1501G=	XP_024306069.1:p.Val501=
NM_000296.4:c.3505G=	NP_000287.4:p.Val1169=
NM_001009944.3:c.3505G= MANE Select	NP_001009944.3:p.Val1169=