Canonical Allele Identifier: CA2202047661

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111542A= , CM000678.2:g.2111542A=	GRCh38
NC_000016.9:g.2161543A= , CM000678.1:g.2161543A=	GRCh37
NC_000016.8:g.2101544A=	NCBI36
NG_008617.1:g.29357T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3625T= MANE Select	ENSP00000262304.4:p.Phe1209=
ENST00000262304.8:c.3625T=	ENSP00000262304.4:p.Phe1209=
ENST00000415938.7:n.310+798T=
ENST00000423118.5:c.3625T=	ENSP00000399501.1:p.Phe1209=
ENST00000468674.5:n.430+798T=
ENST00000469241.2:n.575T=
ENST00000483024.1:c.233+274T=
ENST00000483731.5:n.790+798T=
ENST00000488185.2:c.473-3184T=
ENST00000565639.6:n.773+798T=
ENST00000568591.5:c.2226+798T=	ENSP00000457162.1:n.2226+798T=
ENST00000569983.5:n.421+798T=
NM_000296.3:c.3625T=	NP_000287.3:p.Phe1209=
NM_001009944.2:c.3625T=	NP_001009944.2:p.Phe1209=
XM_005255370.2:c.580T=	XP_005255427.1:p.Phe194=
XM_011522525.1:c.3703T=	XP_011520827.1:p.Phe1235=
XM_011522526.1:c.3703T=	XP_011520828.1:p.Phe1235=
XM_011522527.1:c.3703T=	XP_011520829.1:p.Phe1235=
XM_011522528.1:c.3679T=	XP_011520830.1:p.Phe1227=
XM_011522529.1:c.3679T=	XP_011520831.1:p.Phe1227=
XM_011522530.1:c.3649T=	XP_011520832.1:p.Phe1217=
XM_011522531.1:c.3631T=	XP_011520833.1:p.Phe1211=
XM_011522532.1:c.3577T=	XP_011520834.1:p.Phe1193=
XM_011522533.1:c.3496T=	XP_011520835.1:p.Phe1166=
XM_011522534.1:c.3439T=	XP_011520836.1:p.Phe1147=
XM_011522535.1:c.1525T=	XP_011520837.1:p.Phe509=
XM_011522536.1:c.3703T=	XP_011520838.1:p.Phe1235=
XM_011522537.1:c.703T=	XP_011520839.1:p.Phe235=
XR_932867.1:n.3718T=
XR_932868.1:n.3718T=
XR_932869.1:n.3718T=
XR_932870.1:n.3718T=
XM_005255370.3:c.580T=	XP_005255427.1:p.Phe194=
XM_011522528.3:c.3679T=	XP_011520830.1:p.Phe1227=
XM_011522529.2:c.3679T=	XP_011520831.1:p.Phe1227=
XM_011522537.2:c.703T=	XP_011520839.1:p.Phe235=
XM_024450298.1:c.3745T=	XP_024306066.1:p.Phe1249=
XM_024450299.1:c.3673T=	XP_024306067.1:p.Phe1225=
XM_024450300.1:c.3535T=	XP_024306068.1:p.Phe1179=
XM_024450301.1:c.1621T=	XP_024306069.1:p.Phe541=
NM_000296.4:c.3625T=	NP_000287.4:p.Phe1209=
NM_001009944.3:c.3625T= MANE Select	NP_001009944.3:p.Phe1209=