Canonical Allele Identifier: CA2202050343

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115414G= , CM000678.2:g.2115414G=	GRCh38
NC_000016.9:g.2165415G= , CM000678.1:g.2165415G=	GRCh37
NC_000016.8:g.2105416G=	NCBI36
NG_008617.1:g.25485C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2061C= MANE Select	ENSP00000262304.4:p.Leu687=
ENST00000262304.8:c.2061C=	ENSP00000262304.4:p.Leu687=
ENST00000423118.5:c.2061C=	ENSP00000399501.1:p.Leu687=
ENST00000488185.2:c.472+2075C=
ENST00000568591.5:c.992C=	ENSP00000457162.1:n.992C=
NM_000296.3:c.2061C=	NP_000287.3:p.Leu687=
NM_001009944.2:c.2061C=	NP_001009944.2:p.Leu687=
XM_011522525.1:c.2115C=	XP_011520827.1:p.Leu705=
XM_011522526.1:c.2115C=	XP_011520828.1:p.Leu705=
XM_011522527.1:c.2115C=	XP_011520829.1:p.Leu705=
XM_011522528.1:c.2115C=	XP_011520830.1:p.Leu705=
XM_011522529.1:c.2115C=	XP_011520831.1:p.Leu705=
XM_011522530.1:c.2061C=	XP_011520832.1:p.Leu687=
XM_011522531.1:c.2043C=	XP_011520833.1:p.Leu681=
XM_011522532.1:c.1989C=	XP_011520834.1:p.Leu663=
XM_011522533.1:c.1908C=	XP_011520835.1:p.Leu636=
XM_011522534.1:c.1851C=	XP_011520836.1:p.Leu617=
XM_011522536.1:c.2115C=	XP_011520838.1:p.Leu705=
XR_932867.1:n.2130C=
XR_932868.1:n.2130C=
XR_932869.1:n.2130C=
XR_932870.1:n.2130C=
XM_011522528.3:c.2115C=	XP_011520830.1:p.Leu705=
XM_011522529.2:c.2115C=	XP_011520831.1:p.Leu705=
XM_024450298.1:c.2061C=	XP_024306066.1:p.Leu687=
XM_024450299.1:c.1989C=	XP_024306067.1:p.Leu663=
XM_024450300.1:c.1851C=	XP_024306068.1:p.Leu617=
NM_000296.4:c.2061C=	NP_000287.4:p.Leu687=
NM_001009944.3:c.2061C= MANE Select	NP_001009944.3:p.Leu687=