Canonical Allele Identifier: CA7830604

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103833C>T , CM000678.2:g.2103833C>T	GRCh38
NC_000016.9:g.2153834C>T , CM000678.1:g.2153834C>T	GRCh37
NC_000016.8:g.2093835C>T	NCBI36
NG_008617.1:g.39388G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.8224G>A MANE Select	NP_001009944.3:p.Glu2742Lys
ENST00000262304.9:c.8224G>A MANE Select	ENSP00000262304.4:p.Glu2742Lys
NM_000296.3:c.8224G>A	NP_000287.3:p.Glu2742Lys
NM_000296.4:c.8224G>A	NP_000287.4:p.Glu2742Lys
NM_001009944.2:c.8224G>A	NP_001009944.2:p.Glu2742Lys
ENST00000262304.8:c.8224G>A	ENSP00000262304.4:p.Glu2742Lys
ENST00000415938.7:n.1469G>A
ENST00000423118.5:c.8224G>A	ENSP00000399501.1:p.Glu2742Lys
ENST00000483731.5:n.1949G>A
ENST00000486339.6:n.2360G>A
ENST00000487932.5:c.2911G>A	ENSP00000457132.1:p.Glu971Lys
ENST00000496574.6:n.2460G>A
ENST00000561991.5:n.746G>A
ENST00000565639.6:n.1932G>A
ENST00000567946.1:c.285G>A
XM_005255370.2:c.5179G>A	XP_005255427.1:p.Glu1727Lys
XM_005255370.3:c.5179G>A	XP_005255427.1:p.Glu1727Lys
XM_011522525.1:c.8302G>A	XP_011520827.1:p.Glu2768Lys
XM_011522526.1:c.8302G>A	XP_011520828.1:p.Glu2768Lys
XM_011522527.1:c.8302G>A	XP_011520829.1:p.Glu2768Lys
XM_011522528.1:c.8278G>A	XP_011520830.1:p.Glu2760Lys
XM_011522528.3:c.8278G>A	XP_011520830.1:p.Glu2760Lys
XM_011522529.1:c.8278G>A	XP_011520831.1:p.Glu2760Lys
XM_011522529.2:c.8278G>A	XP_011520831.1:p.Glu2760Lys
XM_011522530.1:c.8248G>A	XP_011520832.1:p.Glu2750Lys
XM_011522531.1:c.8230G>A	XP_011520833.1:p.Glu2744Lys
XM_011522532.1:c.8176G>A	XP_011520834.1:p.Glu2726Lys
XM_011522533.1:c.8095G>A	XP_011520835.1:p.Glu2699Lys
XM_011522534.1:c.8038G>A	XP_011520836.1:p.Glu2680Lys
XM_011522535.1:c.6124G>A	XP_011520837.1:p.Glu2042Lys
XM_011522536.1:c.8302G>A	XP_011520838.1:p.Glu2768Lys
XM_011522537.1:c.5302G>A	XP_011520839.1:p.Glu1768Lys
XM_011522537.2:c.5302G>A	XP_011520839.1:p.Glu1768Lys
XM_024450298.1:c.8344G>A	XP_024306066.1:p.Glu2782Lys
XM_024450299.1:c.8272G>A	XP_024306067.1:p.Glu2758Lys
XM_024450300.1:c.8134G>A	XP_024306068.1:p.Glu2712Lys
XM_024450301.1:c.6220G>A	XP_024306069.1:p.Glu2074Lys
XR_932867.1:n.8317G>A
XR_932868.1:n.8317G>A
XR_932869.1:n.8317G>A
XR_932870.1:n.8317G>A