Canonical Allele Identifier: CA2202035506

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106641C= , CM000678.2:g.2106641C=	GRCh38
NC_000016.9:g.2156642C= , CM000678.1:g.2156642C=	GRCh37
NC_000016.8:g.2096643C=	NCBI36
NG_008617.1:g.34258G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7246G= MANE Select	ENSP00000262304.4:p.Val2416=
ENST00000262304.8:c.7246G=	ENSP00000262304.4:p.Val2416=
ENST00000415938.7:n.491G=
ENST00000423118.5:c.7246G=	ENSP00000399501.1:p.Val2416=
ENST00000483024.1:c.414G=
ENST00000483558.5:n.305G=
ENST00000483731.5:n.971G=
ENST00000486339.6:n.992G=
ENST00000487932.5:c.1933G=	ENSP00000457132.1:p.Val645=
ENST00000496574.6:n.1249G=
ENST00000565639.6:n.954G=
ENST00000568591.5:c.2407G=	ENSP00000457162.1:n.2407G=
ENST00000569983.5:n.602G=
NM_000296.3:c.7246G=	NP_000287.3:p.Val2416=
NM_001009944.2:c.7246G=	NP_001009944.2:p.Val2416=
XM_005255370.2:c.4201G=	XP_005255427.1:p.Val1401=
XM_011522525.1:c.7324G=	XP_011520827.1:p.Val2442=
XM_011522526.1:c.7324G=	XP_011520828.1:p.Val2442=
XM_011522527.1:c.7324G=	XP_011520829.1:p.Val2442=
XM_011522528.1:c.7300G=	XP_011520830.1:p.Val2434=
XM_011522529.1:c.7300G=	XP_011520831.1:p.Val2434=
XM_011522530.1:c.7270G=	XP_011520832.1:p.Val2424=
XM_011522531.1:c.7252G=	XP_011520833.1:p.Val2418=
XM_011522532.1:c.7198G=	XP_011520834.1:p.Val2400=
XM_011522533.1:c.7117G=	XP_011520835.1:p.Val2373=
XM_011522534.1:c.7060G=	XP_011520836.1:p.Val2354=
XM_011522535.1:c.5146G=	XP_011520837.1:p.Val1716=
XM_011522536.1:c.7324G=	XP_011520838.1:p.Val2442=
XM_011522537.1:c.4324G=	XP_011520839.1:p.Val1442=
XR_932867.1:n.7339G=
XR_932868.1:n.7339G=
XR_932869.1:n.7339G=
XR_932870.1:n.7339G=
XM_005255370.3:c.4201G=	XP_005255427.1:p.Val1401=
XM_011522528.3:c.7300G=	XP_011520830.1:p.Val2434=
XM_011522529.2:c.7300G=	XP_011520831.1:p.Val2434=
XM_011522537.2:c.4324G=	XP_011520839.1:p.Val1442=
XM_024450298.1:c.7366G=	XP_024306066.1:p.Val2456=
XM_024450299.1:c.7294G=	XP_024306067.1:p.Val2432=
XM_024450300.1:c.7156G=	XP_024306068.1:p.Val2386=
XM_024450301.1:c.5242G=	XP_024306069.1:p.Val1748=
NM_000296.4:c.7246G=	NP_000287.4:p.Val2416=
NM_001009944.3:c.7246G= MANE Select	NP_001009944.3:p.Val2416=