Canonical Allele Identifier: CA2202047793

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111722G= , CM000678.2:g.2111722G=	GRCh38
NC_000016.9:g.2161723G= , CM000678.1:g.2161723G=	GRCh37
NC_000016.8:g.2101724G=	NCBI36
NG_008617.1:g.29177C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3445C= MANE Select	ENSP00000262304.4:p.His1149=
ENST00000262304.8:c.3445C=	ENSP00000262304.4:p.His1149=
ENST00000415938.7:n.310+618C=
ENST00000423118.5:c.3445C=	ENSP00000399501.1:p.His1149=
ENST00000468674.5:n.430+618C=
ENST00000469241.2:n.395C=
ENST00000483024.1:c.233+94C=
ENST00000483731.5:n.790+618C=
ENST00000488185.2:c.473-3364C=
ENST00000565639.6:n.773+618C=
ENST00000568591.5:c.2226+618C=	ENSP00000457162.1:n.2226+618C=
ENST00000569983.5:n.421+618C=
NM_000296.3:c.3445C=	NP_000287.3:p.His1149=
NM_001009944.2:c.3445C=	NP_001009944.2:p.His1149=
XM_005255370.2:c.400C=	XP_005255427.1:p.His134=
XM_011522525.1:c.3523C=	XP_011520827.1:p.His1175=
XM_011522526.1:c.3523C=	XP_011520828.1:p.His1175=
XM_011522527.1:c.3523C=	XP_011520829.1:p.His1175=
XM_011522528.1:c.3499C=	XP_011520830.1:p.His1167=
XM_011522529.1:c.3499C=	XP_011520831.1:p.His1167=
XM_011522530.1:c.3469C=	XP_011520832.1:p.His1157=
XM_011522531.1:c.3451C=	XP_011520833.1:p.His1151=
XM_011522532.1:c.3397C=	XP_011520834.1:p.His1133=
XM_011522533.1:c.3316C=	XP_011520835.1:p.His1106=
XM_011522534.1:c.3259C=	XP_011520836.1:p.His1087=
XM_011522535.1:c.1345C=	XP_011520837.1:p.His449=
XM_011522536.1:c.3523C=	XP_011520838.1:p.His1175=
XM_011522537.1:c.523C=	XP_011520839.1:p.His175=
XR_932867.1:n.3538C=
XR_932868.1:n.3538C=
XR_932869.1:n.3538C=
XR_932870.1:n.3538C=
XM_005255370.3:c.400C=	XP_005255427.1:p.His134=
XM_011522528.3:c.3499C=	XP_011520830.1:p.His1167=
XM_011522529.2:c.3499C=	XP_011520831.1:p.His1167=
XM_011522537.2:c.523C=	XP_011520839.1:p.His175=
XM_024450298.1:c.3565C=	XP_024306066.1:p.His1189=
XM_024450299.1:c.3493C=	XP_024306067.1:p.His1165=
XM_024450300.1:c.3355C=	XP_024306068.1:p.His1119=
XM_024450301.1:c.1441C=	XP_024306069.1:p.His481=
NM_000296.4:c.3445C=	NP_000287.4:p.His1149=
NM_001009944.3:c.3445C= MANE Select	NP_001009944.3:p.His1149=