Canonical Allele Identifier: CA2202023218

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103840C= , CM000678.2:g.2103840C=	GRCh38
NC_000016.9:g.2153841C= , CM000678.1:g.2153841C=	GRCh37
NC_000016.8:g.2093842C=	NCBI36
NG_008617.1:g.39381G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8217G= MANE Select	ENSP00000262304.4:p.Leu2739=
ENST00000262304.8:c.8217G=	ENSP00000262304.4:p.Leu2739=
ENST00000415938.7:n.1462G=
ENST00000423118.5:c.8217G=	ENSP00000399501.1:p.Leu2739=
ENST00000483731.5:n.1942G=
ENST00000486339.6:n.2353G=
ENST00000487932.5:c.2904G=	ENSP00000457132.1:p.Leu968=
ENST00000496574.6:n.2453G=
ENST00000561991.5:n.739G=
ENST00000565639.6:n.1925G=
ENST00000567946.1:c.278G=
NM_000296.3:c.8217G=	NP_000287.3:p.Leu2739=
NM_001009944.2:c.8217G=	NP_001009944.2:p.Leu2739=
XM_005255370.2:c.5172G=	XP_005255427.1:p.Leu1724=
XM_011522525.1:c.8295G=	XP_011520827.1:p.Leu2765=
XM_011522526.1:c.8295G=	XP_011520828.1:p.Leu2765=
XM_011522527.1:c.8295G=	XP_011520829.1:p.Leu2765=
XM_011522528.1:c.8271G=	XP_011520830.1:p.Leu2757=
XM_011522529.1:c.8271G=	XP_011520831.1:p.Leu2757=
XM_011522530.1:c.8241G=	XP_011520832.1:p.Leu2747=
XM_011522531.1:c.8223G=	XP_011520833.1:p.Leu2741=
XM_011522532.1:c.8169G=	XP_011520834.1:p.Leu2723=
XM_011522533.1:c.8088G=	XP_011520835.1:p.Leu2696=
XM_011522534.1:c.8031G=	XP_011520836.1:p.Leu2677=
XM_011522535.1:c.6117G=	XP_011520837.1:p.Leu2039=
XM_011522536.1:c.8295G=	XP_011520838.1:p.Leu2765=
XM_011522537.1:c.5295G=	XP_011520839.1:p.Leu1765=
XR_932867.1:n.8310G=
XR_932868.1:n.8310G=
XR_932869.1:n.8310G=
XR_932870.1:n.8310G=
XM_005255370.3:c.5172G=	XP_005255427.1:p.Leu1724=
XM_011522528.3:c.8271G=	XP_011520830.1:p.Leu2757=
XM_011522529.2:c.8271G=	XP_011520831.1:p.Leu2757=
XM_011522537.2:c.5295G=	XP_011520839.1:p.Leu1765=
XM_024450298.1:c.8337G=	XP_024306066.1:p.Leu2779=
XM_024450299.1:c.8265G=	XP_024306067.1:p.Leu2755=
XM_024450300.1:c.8127G=	XP_024306068.1:p.Leu2709=
XM_024450301.1:c.6213G=	XP_024306069.1:p.Leu2071=
NM_000296.4:c.8217G=	NP_000287.4:p.Leu2739=
NM_001009944.3:c.8217G= MANE Select	NP_001009944.3:p.Leu2739=