Canonical Allele Identifier: CA2202035382

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106618G= , CM000678.2:g.2106618G=	GRCh38
NC_000016.9:g.2156619G= , CM000678.1:g.2156619G=	GRCh37
NC_000016.8:g.2096620G=	NCBI36
NG_008617.1:g.34281C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7269C= MANE Select	ENSP00000262304.4:p.Ser2423=
ENST00000262304.8:c.7269C=	ENSP00000262304.4:p.Ser2423=
ENST00000415938.7:n.514C=
ENST00000423118.5:c.7269C=	ENSP00000399501.1:p.Ser2423=
ENST00000483024.1:c.437C=
ENST00000483558.5:n.328C=
ENST00000483731.5:n.994C=
ENST00000486339.6:n.1015C=
ENST00000487932.5:c.1956C=	ENSP00000457132.1:p.Ser652=
ENST00000496574.6:n.1272C=
ENST00000565639.6:n.977C=
ENST00000568591.5:c.2430C=	ENSP00000457162.1:n.2430C=
ENST00000569983.5:n.625C=
NM_000296.3:c.7269C=	NP_000287.3:p.Ser2423=
NM_001009944.2:c.7269C=	NP_001009944.2:p.Ser2423=
XM_005255370.2:c.4224C=	XP_005255427.1:p.Ser1408=
XM_011522525.1:c.7347C=	XP_011520827.1:p.Ser2449=
XM_011522526.1:c.7347C=	XP_011520828.1:p.Ser2449=
XM_011522527.1:c.7347C=	XP_011520829.1:p.Ser2449=
XM_011522528.1:c.7323C=	XP_011520830.1:p.Ser2441=
XM_011522529.1:c.7323C=	XP_011520831.1:p.Ser2441=
XM_011522530.1:c.7293C=	XP_011520832.1:p.Ser2431=
XM_011522531.1:c.7275C=	XP_011520833.1:p.Ser2425=
XM_011522532.1:c.7221C=	XP_011520834.1:p.Ser2407=
XM_011522533.1:c.7140C=	XP_011520835.1:p.Ser2380=
XM_011522534.1:c.7083C=	XP_011520836.1:p.Ser2361=
XM_011522535.1:c.5169C=	XP_011520837.1:p.Ser1723=
XM_011522536.1:c.7347C=	XP_011520838.1:p.Ser2449=
XM_011522537.1:c.4347C=	XP_011520839.1:p.Ser1449=
XR_932867.1:n.7362C=
XR_932868.1:n.7362C=
XR_932869.1:n.7362C=
XR_932870.1:n.7362C=
XM_005255370.3:c.4224C=	XP_005255427.1:p.Ser1408=
XM_011522528.3:c.7323C=	XP_011520830.1:p.Ser2441=
XM_011522529.2:c.7323C=	XP_011520831.1:p.Ser2441=
XM_011522537.2:c.4347C=	XP_011520839.1:p.Ser1449=
XM_024450298.1:c.7389C=	XP_024306066.1:p.Ser2463=
XM_024450299.1:c.7317C=	XP_024306067.1:p.Ser2439=
XM_024450300.1:c.7179C=	XP_024306068.1:p.Ser2393=
XM_024450301.1:c.5265C=	XP_024306069.1:p.Ser1755=
NM_000296.4:c.7269C=	NP_000287.4:p.Ser2423=
NM_001009944.3:c.7269C= MANE Select	NP_001009944.3:p.Ser2423=