Canonical Allele Identifier: CA2202052410

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118663C= , CM000678.2:g.2118663C=	GRCh38
NC_000016.9:g.2168664C= , CM000678.1:g.2168664C=	GRCh37
NC_000016.8:g.2108665C=	NCBI36
NG_008617.1:g.22236G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.529+13G= MANE Select	ENSP00000262304.4:n.529+13G=
ENST00000262304.8:c.529+13G=	ENSP00000262304.4:n.529+13G=
ENST00000423118.5:c.529+13G=	ENSP00000399501.1:n.529+13G=
NM_000296.3:c.529+13G=	NP_000287.3:n.529+13G=
NM_001009944.2:c.529+13G=	NP_001009944.2:n.529+13G=
XM_011522525.1:c.583+13G=	XP_011520827.1:n.583+13G=
XM_011522526.1:c.583+13G=	XP_011520828.1:n.583+13G=
XM_011522527.1:c.583+13G=	XP_011520829.1:n.583+13G=
XM_011522528.1:c.583+13G=	XP_011520830.1:n.583+13G=
XM_011522529.1:c.583+13G=	XP_011520831.1:n.583+13G=
XM_011522530.1:c.529+13G=	XP_011520832.1:n.529+13G=
XM_011522531.1:c.511+13G=	XP_011520833.1:n.511+13G=
XM_011522532.1:c.457+13G=	XP_011520834.1:n.457+13G=
XM_011522533.1:c.376+13G=	XP_011520835.1:n.376+13G=
XM_011522534.1:c.319+13G=	XP_011520836.1:n.319+13G=
XM_011522536.1:c.583+13G=	XP_011520838.1:n.583+13G=
XR_932867.1:n.598+13G=
XR_932868.1:n.598+13G=
XR_932869.1:n.598+13G=
XR_932870.1:n.598+13G=
XM_011522528.3:c.583+13G=	XP_011520830.1:n.583+13G=
XM_011522529.2:c.583+13G=	XP_011520831.1:n.583+13G=
XM_024450298.1:c.529+13G=	XP_024306066.1:n.529+13G=
XM_024450299.1:c.457+13G=	XP_024306067.1:n.457+13G=
XM_024450300.1:c.319+13G=	XP_024306068.1:n.319+13G=
NM_000296.4:c.529+13G=	NP_000287.4:n.529+13G=
NM_001009944.3:c.529+13G= MANE Select	NP_001009944.3:n.529+13G=