Canonical Allele Identifier: CA2202034821

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106526G= , CM000678.2:g.2106526G=	GRCh38
NC_000016.9:g.2156527G= , CM000678.1:g.2156527G=	GRCh37
NC_000016.8:g.2096528G=	NCBI36
NG_008617.1:g.34373C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7361C= MANE Select	ENSP00000262304.4:p.Ser2454=
ENST00000262304.8:c.7361C=	ENSP00000262304.4:p.Ser2454=
ENST00000415938.7:n.606C=
ENST00000423118.5:c.7361C=	ENSP00000399501.1:p.Ser2454=
ENST00000483558.5:n.420C=
ENST00000483731.5:n.1086C=
ENST00000486339.6:n.1107C=
ENST00000487932.5:c.2048C=	ENSP00000457132.1:p.Ser683=
ENST00000496574.6:n.1364C=
ENST00000565639.6:n.1069C=
ENST00000568591.5:c.2522C=	ENSP00000457162.1:n.2522C=
ENST00000569983.5:n.717C=
NM_000296.3:c.7361C=	NP_000287.3:p.Ser2454=
NM_001009944.2:c.7361C=	NP_001009944.2:p.Ser2454=
XM_005255370.2:c.4316C=	XP_005255427.1:p.Ser1439=
XM_011522525.1:c.7439C=	XP_011520827.1:p.Ser2480=
XM_011522526.1:c.7439C=	XP_011520828.1:p.Ser2480=
XM_011522527.1:c.7439C=	XP_011520829.1:p.Ser2480=
XM_011522528.1:c.7415C=	XP_011520830.1:p.Ser2472=
XM_011522529.1:c.7415C=	XP_011520831.1:p.Ser2472=
XM_011522530.1:c.7385C=	XP_011520832.1:p.Ser2462=
XM_011522531.1:c.7367C=	XP_011520833.1:p.Ser2456=
XM_011522532.1:c.7313C=	XP_011520834.1:p.Ser2438=
XM_011522533.1:c.7232C=	XP_011520835.1:p.Ser2411=
XM_011522534.1:c.7175C=	XP_011520836.1:p.Ser2392=
XM_011522535.1:c.5261C=	XP_011520837.1:p.Ser1754=
XM_011522536.1:c.7439C=	XP_011520838.1:p.Ser2480=
XM_011522537.1:c.4439C=	XP_011520839.1:p.Ser1480=
XR_932867.1:n.7454C=
XR_932868.1:n.7454C=
XR_932869.1:n.7454C=
XR_932870.1:n.7454C=
XM_005255370.3:c.4316C=	XP_005255427.1:p.Ser1439=
XM_011522528.3:c.7415C=	XP_011520830.1:p.Ser2472=
XM_011522529.2:c.7415C=	XP_011520831.1:p.Ser2472=
XM_011522537.2:c.4439C=	XP_011520839.1:p.Ser1480=
XM_024450298.1:c.7481C=	XP_024306066.1:p.Ser2494=
XM_024450299.1:c.7409C=	XP_024306067.1:p.Ser2470=
XM_024450300.1:c.7271C=	XP_024306068.1:p.Ser2424=
XM_024450301.1:c.5357C=	XP_024306069.1:p.Ser1786=
NM_000296.4:c.7361C=	NP_000287.4:p.Ser2454=
NM_001009944.3:c.7361C= MANE Select	NP_001009944.3:p.Ser2454=