Canonical Allele Identifier: CA2202047679

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111564C= , CM000678.2:g.2111564C=	GRCh38
NC_000016.9:g.2161565C= , CM000678.1:g.2161565C=	GRCh37
NC_000016.8:g.2101566C=	NCBI36
NG_008617.1:g.29335G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3603G= MANE Select	ENSP00000262304.4:p.Ala1201=
ENST00000262304.8:c.3603G=	ENSP00000262304.4:p.Ala1201=
ENST00000415938.7:n.310+776G=
ENST00000423118.5:c.3603G=	ENSP00000399501.1:p.Ala1201=
ENST00000468674.5:n.430+776G=
ENST00000469241.2:n.553G=
ENST00000483024.1:c.233+252G=
ENST00000483731.5:n.790+776G=
ENST00000488185.2:c.473-3206G=
ENST00000565639.6:n.773+776G=
ENST00000568591.5:c.2226+776G=	ENSP00000457162.1:n.2226+776G=
ENST00000569983.5:n.421+776G=
NM_000296.3:c.3603G=	NP_000287.3:p.Ala1201=
NM_001009944.2:c.3603G=	NP_001009944.2:p.Ala1201=
XM_005255370.2:c.558G=	XP_005255427.1:p.Ala186=
XM_011522525.1:c.3681G=	XP_011520827.1:p.Ala1227=
XM_011522526.1:c.3681G=	XP_011520828.1:p.Ala1227=
XM_011522527.1:c.3681G=	XP_011520829.1:p.Ala1227=
XM_011522528.1:c.3657G=	XP_011520830.1:p.Ala1219=
XM_011522529.1:c.3657G=	XP_011520831.1:p.Ala1219=
XM_011522530.1:c.3627G=	XP_011520832.1:p.Ala1209=
XM_011522531.1:c.3609G=	XP_011520833.1:p.Ala1203=
XM_011522532.1:c.3555G=	XP_011520834.1:p.Ala1185=
XM_011522533.1:c.3474G=	XP_011520835.1:p.Ala1158=
XM_011522534.1:c.3417G=	XP_011520836.1:p.Ala1139=
XM_011522535.1:c.1503G=	XP_011520837.1:p.Ala501=
XM_011522536.1:c.3681G=	XP_011520838.1:p.Ala1227=
XM_011522537.1:c.681G=	XP_011520839.1:p.Ala227=
XR_932867.1:n.3696G=
XR_932868.1:n.3696G=
XR_932869.1:n.3696G=
XR_932870.1:n.3696G=
XM_005255370.3:c.558G=	XP_005255427.1:p.Ala186=
XM_011522528.3:c.3657G=	XP_011520830.1:p.Ala1219=
XM_011522529.2:c.3657G=	XP_011520831.1:p.Ala1219=
XM_011522537.2:c.681G=	XP_011520839.1:p.Ala227=
XM_024450298.1:c.3723G=	XP_024306066.1:p.Ala1241=
XM_024450299.1:c.3651G=	XP_024306067.1:p.Ala1217=
XM_024450300.1:c.3513G=	XP_024306068.1:p.Ala1171=
XM_024450301.1:c.1599G=	XP_024306069.1:p.Ala533=
NM_000296.4:c.3603G=	NP_000287.4:p.Ala1201=
NM_001009944.3:c.3603G= MANE Select	NP_001009944.3:p.Ala1201=