Canonical Allele Identifier: CA2202047714

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111615C= , CM000678.2:g.2111615C=	GRCh38
NC_000016.9:g.2161616C= , CM000678.1:g.2161616C=	GRCh37
NC_000016.8:g.2101617C=	NCBI36
NG_008617.1:g.29284G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3552G= MANE Select	ENSP00000262304.4:p.Arg1184=
ENST00000262304.8:c.3552G=	ENSP00000262304.4:p.Arg1184=
ENST00000415938.7:n.310+725G=
ENST00000423118.5:c.3552G=	ENSP00000399501.1:p.Arg1184=
ENST00000468674.5:n.430+725G=
ENST00000469241.2:n.502G=
ENST00000483024.1:c.233+201G=
ENST00000483731.5:n.790+725G=
ENST00000488185.2:c.473-3257G=
ENST00000565639.6:n.773+725G=
ENST00000568591.5:c.2226+725G=	ENSP00000457162.1:n.2226+725G=
ENST00000569983.5:n.421+725G=
NM_000296.3:c.3552G=	NP_000287.3:p.Arg1184=
NM_001009944.2:c.3552G=	NP_001009944.2:p.Arg1184=
XM_005255370.2:c.507G=	XP_005255427.1:p.Arg169=
XM_011522525.1:c.3630G=	XP_011520827.1:p.Arg1210=
XM_011522526.1:c.3630G=	XP_011520828.1:p.Arg1210=
XM_011522527.1:c.3630G=	XP_011520829.1:p.Arg1210=
XM_011522528.1:c.3606G=	XP_011520830.1:p.Arg1202=
XM_011522529.1:c.3606G=	XP_011520831.1:p.Arg1202=
XM_011522530.1:c.3576G=	XP_011520832.1:p.Arg1192=
XM_011522531.1:c.3558G=	XP_011520833.1:p.Arg1186=
XM_011522532.1:c.3504G=	XP_011520834.1:p.Arg1168=
XM_011522533.1:c.3423G=	XP_011520835.1:p.Arg1141=
XM_011522534.1:c.3366G=	XP_011520836.1:p.Arg1122=
XM_011522535.1:c.1452G=	XP_011520837.1:p.Arg484=
XM_011522536.1:c.3630G=	XP_011520838.1:p.Arg1210=
XM_011522537.1:c.630G=	XP_011520839.1:p.Arg210=
XR_932867.1:n.3645G=
XR_932868.1:n.3645G=
XR_932869.1:n.3645G=
XR_932870.1:n.3645G=
XM_005255370.3:c.507G=	XP_005255427.1:p.Arg169=
XM_011522528.3:c.3606G=	XP_011520830.1:p.Arg1202=
XM_011522529.2:c.3606G=	XP_011520831.1:p.Arg1202=
XM_011522537.2:c.630G=	XP_011520839.1:p.Arg210=
XM_024450298.1:c.3672G=	XP_024306066.1:p.Arg1224=
XM_024450299.1:c.3600G=	XP_024306067.1:p.Arg1200=
XM_024450300.1:c.3462G=	XP_024306068.1:p.Arg1154=
XM_024450301.1:c.1548G=	XP_024306069.1:p.Arg516=
NM_000296.4:c.3552G=	NP_000287.4:p.Arg1184=
NM_001009944.3:c.3552G= MANE Select	NP_001009944.3:p.Arg1184=