Canonical Allele Identifier: CA7829461

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2093954C>T , CM000678.2:g.2093954C>T	GRCh38
NC_000016.9:g.2143955C>T , CM000678.1:g.2143955C>T	GRCh37
NC_000016.8:g.2083956C>T	NCBI36
NG_008617.1:g.49267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10678G>A (PKD1) MANE Select	ENSP00000262304.4:p.Gly3560Arg
ENST00000262304.8:c.10678G>A (PKD1)	ENSP00000262304.4:p.Gly3560Arg
ENST00000423118.5:c.10675G>A (PKD1)	ENSP00000399501.1:p.Gly3559Arg
ENST00000472659.1:n.115G>A (PKD1)
ENST00000487932.5:c.5240G>A (PKD1)	ENSP00000457132.1:n.5240G>A
NM_000296.3:c.10675G>A (PKD1)	NP_000287.3:p.Gly3559Arg
NM_001009944.2:c.10678G>A (PKD1)	NP_001009944.2:p.Gly3560Arg
XM_005255370.2:c.7633G>A (PKD1)	XP_005255427.1:p.Gly2545Arg
XM_011522525.1:c.10756G>A (PKD1)	XP_011520827.1:p.Gly3586Arg
XM_011522526.1:c.10753G>A (PKD1)	XP_011520828.1:p.Gly3585Arg
XM_011522527.1:c.10738G>A (PKD1)	XP_011520829.1:p.Gly3580Arg
XM_011522528.1:c.10732G>A (PKD1)	XP_011520830.1:p.Gly3578Arg
XM_011522529.1:c.10729G>A (PKD1)	XP_011520831.1:p.Gly3577Arg
XM_011522530.1:c.10702G>A (PKD1)	XP_011520832.1:p.Gly3568Arg
XM_011522531.1:c.10684G>A (PKD1)	XP_011520833.1:p.Gly3562Arg
XM_011522532.1:c.10630G>A (PKD1)	XP_011520834.1:p.Gly3544Arg
XM_011522533.1:c.10549G>A (PKD1)	XP_011520835.1:p.Gly3517Arg
XM_011522534.1:c.10492G>A (PKD1)	XP_011520836.1:p.Gly3498Arg
XM_011522535.1:c.8578G>A (PKD1)	XP_011520837.1:p.Gly2860Arg
XM_011522537.1:c.7756G>A (PKD1)	XP_011520839.1:p.Gly2586Arg
XR_932867.1:n.10771G>A (PKD1)
XR_932868.1:n.10771G>A (PKD1)
XR_932869.1:n.10771G>A (PKD1)
XR_932870.1:n.10771G>A (PKD1)
XR_933000.1:n.214-724C>T (PKD1-AS1)
XR_933001.1:n.304-767C>T (PKD1-AS1)
XR_933002.1:n.213-724C>T (PKD1-AS1)
XR_933003.1:n.213-767C>T (PKD1-AS1)
NR_135175.1:n.304-767C>T (PKD1-AS1)
XM_005255370.3:c.7633G>A (PKD1)	XP_005255427.1:p.Gly2545Arg
XM_011522528.3:c.10732G>A (PKD1)	XP_011520830.1:p.Gly3578Arg
XM_011522529.2:c.10729G>A (PKD1)	XP_011520831.1:p.Gly3577Arg
XM_011522537.2:c.7756G>A (PKD1)	XP_011520839.1:p.Gly2586Arg
XM_024450298.1:c.10798G>A (PKD1)	XP_024306066.1:p.Gly3600Arg
XM_024450299.1:c.10726G>A (PKD1)	XP_024306067.1:p.Gly3576Arg
XM_024450300.1:c.10588G>A (PKD1)	XP_024306068.1:p.Gly3530Arg
XM_024450301.1:c.8674G>A (PKD1)	XP_024306069.1:p.Gly2892Arg
NM_000296.4:c.10675G>A (PKD1)	NP_000287.4:p.Gly3559Arg
NM_001009944.3:c.10678G>A (PKD1) MANE Select	NP_001009944.3:p.Gly3560Arg