Canonical Allele Identifier: CA2202051930

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117831G= , CM000678.2:g.2117831G=	GRCh38
NC_000016.9:g.2167832G= , CM000678.1:g.2167832G=	GRCh37
NC_000016.8:g.2107833G=	NCBI36
NG_008617.1:g.23068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1161C= MANE Select	ENSP00000262304.4:p.Ala387=
ENST00000262304.8:c.1161C=	ENSP00000262304.4:p.Ala387=
ENST00000423118.5:c.1161C=	ENSP00000399501.1:p.Ala387=
ENST00000488185.2:c.248C=
ENST00000568591.5:c.129C=	ENSP00000457162.1:p.Ala43=
ENST00000570150.1:n.294C=
NM_000296.3:c.1161C=	NP_000287.3:p.Ala387=
NM_001009944.2:c.1161C=	NP_001009944.2:p.Ala387=
XM_011522525.1:c.1215C=	XP_011520827.1:p.Ala405=
XM_011522526.1:c.1215C=	XP_011520828.1:p.Ala405=
XM_011522527.1:c.1215C=	XP_011520829.1:p.Ala405=
XM_011522528.1:c.1215C=	XP_011520830.1:p.Ala405=
XM_011522529.1:c.1215C=	XP_011520831.1:p.Ala405=
XM_011522530.1:c.1161C=	XP_011520832.1:p.Ala387=
XM_011522531.1:c.1143C=	XP_011520833.1:p.Ala381=
XM_011522532.1:c.1089C=	XP_011520834.1:p.Ala363=
XM_011522533.1:c.1008C=	XP_011520835.1:p.Ala336=
XM_011522534.1:c.951C=	XP_011520836.1:p.Ala317=
XM_011522536.1:c.1215C=	XP_011520838.1:p.Ala405=
XR_932867.1:n.1230C=
XR_932868.1:n.1230C=
XR_932869.1:n.1230C=
XR_932870.1:n.1230C=
XM_011522528.3:c.1215C=	XP_011520830.1:p.Ala405=
XM_011522529.2:c.1215C=	XP_011520831.1:p.Ala405=
XM_024450298.1:c.1161C=	XP_024306066.1:p.Ala387=
XM_024450299.1:c.1089C=	XP_024306067.1:p.Ala363=
XM_024450300.1:c.951C=	XP_024306068.1:p.Ala317=
NM_000296.4:c.1161C=	NP_000287.4:p.Ala387=
NM_001009944.3:c.1161C= MANE Select	NP_001009944.3:p.Ala387=