Canonical Allele Identifier: CA2202047782

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111706G= , CM000678.2:g.2111706G=	GRCh38
NC_000016.9:g.2161707G= , CM000678.1:g.2161707G=	GRCh37
NC_000016.8:g.2101708G=	NCBI36
NG_008617.1:g.29193C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3461C= MANE Select	ENSP00000262304.4:p.Pro1154=
ENST00000262304.8:c.3461C=	ENSP00000262304.4:p.Pro1154=
ENST00000415938.7:n.310+634C=
ENST00000423118.5:c.3461C=	ENSP00000399501.1:p.Pro1154=
ENST00000468674.5:n.430+634C=
ENST00000469241.2:n.411C=
ENST00000483024.1:c.233+110C=
ENST00000483731.5:n.790+634C=
ENST00000488185.2:c.473-3348C=
ENST00000565639.6:n.773+634C=
ENST00000568591.5:c.2226+634C=	ENSP00000457162.1:n.2226+634C=
ENST00000569983.5:n.421+634C=
NM_000296.3:c.3461C=	NP_000287.3:p.Pro1154=
NM_001009944.2:c.3461C=	NP_001009944.2:p.Pro1154=
XM_005255370.2:c.416C=	XP_005255427.1:p.Pro139=
XM_011522525.1:c.3539C=	XP_011520827.1:p.Pro1180=
XM_011522526.1:c.3539C=	XP_011520828.1:p.Pro1180=
XM_011522527.1:c.3539C=	XP_011520829.1:p.Pro1180=
XM_011522528.1:c.3515C=	XP_011520830.1:p.Pro1172=
XM_011522529.1:c.3515C=	XP_011520831.1:p.Pro1172=
XM_011522530.1:c.3485C=	XP_011520832.1:p.Pro1162=
XM_011522531.1:c.3467C=	XP_011520833.1:p.Pro1156=
XM_011522532.1:c.3413C=	XP_011520834.1:p.Pro1138=
XM_011522533.1:c.3332C=	XP_011520835.1:p.Pro1111=
XM_011522534.1:c.3275C=	XP_011520836.1:p.Pro1092=
XM_011522535.1:c.1361C=	XP_011520837.1:p.Pro454=
XM_011522536.1:c.3539C=	XP_011520838.1:p.Pro1180=
XM_011522537.1:c.539C=	XP_011520839.1:p.Pro180=
XR_932867.1:n.3554C=
XR_932868.1:n.3554C=
XR_932869.1:n.3554C=
XR_932870.1:n.3554C=
XM_005255370.3:c.416C=	XP_005255427.1:p.Pro139=
XM_011522528.3:c.3515C=	XP_011520830.1:p.Pro1172=
XM_011522529.2:c.3515C=	XP_011520831.1:p.Pro1172=
XM_011522537.2:c.539C=	XP_011520839.1:p.Pro180=
XM_024450298.1:c.3581C=	XP_024306066.1:p.Pro1194=
XM_024450299.1:c.3509C=	XP_024306067.1:p.Pro1170=
XM_024450300.1:c.3371C=	XP_024306068.1:p.Pro1124=
XM_024450301.1:c.1457C=	XP_024306069.1:p.Pro486=
NM_000296.4:c.3461C=	NP_000287.4:p.Pro1154=
NM_001009944.3:c.3461C= MANE Select	NP_001009944.3:p.Pro1154=