Canonical Allele Identifier: CA2202047695

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111584T= , CM000678.2:g.2111584T=	GRCh38
NC_000016.9:g.2161585T= , CM000678.1:g.2161585T=	GRCh37
NC_000016.8:g.2101586T=	NCBI36
NG_008617.1:g.29315A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3583A= MANE Select	ENSP00000262304.4:p.Asn1195=
ENST00000262304.8:c.3583A=	ENSP00000262304.4:p.Asn1195=
ENST00000415938.7:n.310+756A=
ENST00000423118.5:c.3583A=	ENSP00000399501.1:p.Asn1195=
ENST00000468674.5:n.430+756A=
ENST00000469241.2:n.533A=
ENST00000483024.1:c.233+232A=
ENST00000483731.5:n.790+756A=
ENST00000488185.2:c.473-3226A=
ENST00000565639.6:n.773+756A=
ENST00000568591.5:c.2226+756A=	ENSP00000457162.1:n.2226+756A=
ENST00000569983.5:n.421+756A=
NM_000296.3:c.3583A=	NP_000287.3:p.Asn1195=
NM_001009944.2:c.3583A=	NP_001009944.2:p.Asn1195=
XM_005255370.2:c.538A=	XP_005255427.1:p.Asn180=
XM_011522525.1:c.3661A=	XP_011520827.1:p.Asn1221=
XM_011522526.1:c.3661A=	XP_011520828.1:p.Asn1221=
XM_011522527.1:c.3661A=	XP_011520829.1:p.Asn1221=
XM_011522528.1:c.3637A=	XP_011520830.1:p.Asn1213=
XM_011522529.1:c.3637A=	XP_011520831.1:p.Asn1213=
XM_011522530.1:c.3607A=	XP_011520832.1:p.Asn1203=
XM_011522531.1:c.3589A=	XP_011520833.1:p.Asn1197=
XM_011522532.1:c.3535A=	XP_011520834.1:p.Asn1179=
XM_011522533.1:c.3454A=	XP_011520835.1:p.Asn1152=
XM_011522534.1:c.3397A=	XP_011520836.1:p.Asn1133=
XM_011522535.1:c.1483A=	XP_011520837.1:p.Asn495=
XM_011522536.1:c.3661A=	XP_011520838.1:p.Asn1221=
XM_011522537.1:c.661A=	XP_011520839.1:p.Asn221=
XR_932867.1:n.3676A=
XR_932868.1:n.3676A=
XR_932869.1:n.3676A=
XR_932870.1:n.3676A=
XM_005255370.3:c.538A=	XP_005255427.1:p.Asn180=
XM_011522528.3:c.3637A=	XP_011520830.1:p.Asn1213=
XM_011522529.2:c.3637A=	XP_011520831.1:p.Asn1213=
XM_011522537.2:c.661A=	XP_011520839.1:p.Asn221=
XM_024450298.1:c.3703A=	XP_024306066.1:p.Asn1235=
XM_024450299.1:c.3631A=	XP_024306067.1:p.Asn1211=
XM_024450300.1:c.3493A=	XP_024306068.1:p.Asn1165=
XM_024450301.1:c.1579A=	XP_024306069.1:p.Asn527=
NM_000296.4:c.3583A=	NP_000287.4:p.Asn1195=
NM_001009944.3:c.3583A= MANE Select	NP_001009944.3:p.Asn1195=