Canonical Allele Identifier: CA2202041584

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090383C= , CM000678.2:g.2090383C=	GRCh38
NC_000016.9:g.2140384C= , CM000678.1:g.2140384C=	GRCh37
NC_000016.8:g.2080385C=	NCBI36
NG_005895.1:g.46078C= , LRG_487:g.46078C=
NG_008617.1:g.52838G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12346G= MANE Select	ENSP00000262304.4:p.Glu4116=
ENST00000262304.8:c.12346G=	ENSP00000262304.4:p.Glu4116=
ENST00000423118.5:c.12343G=	ENSP00000399501.1:p.Glu4115=
ENST00000472577.1:n.374G=
NM_000296.3:c.12343G=	NP_000287.3:p.Glu4115=
NM_001009944.2:c.12346G=	NP_001009944.2:p.Glu4116=
XM_005255370.2:c.9301G=	XP_005255427.1:p.Glu3101=
XM_011522525.1:c.12424G=	XP_011520827.1:p.Glu4142=
XM_011522526.1:c.12421G=	XP_011520828.1:p.Glu4141=
XM_011522527.1:c.12406G=	XP_011520829.1:p.Glu4136=
XM_011522528.1:c.12400G=	XP_011520830.1:p.Glu4134=
XM_011522529.1:c.12397G=	XP_011520831.1:p.Glu4133=
XM_011522530.1:c.12370G=	XP_011520832.1:p.Glu4124=
XM_011522531.1:c.12352G=	XP_011520833.1:p.Glu4118=
XM_011522532.1:c.12298G=	XP_011520834.1:p.Glu4100=
XM_011522533.1:c.12217G=	XP_011520835.1:p.Glu4073=
XM_011522534.1:c.12160G=	XP_011520836.1:p.Glu4054=
XM_011522535.1:c.10246G=	XP_011520837.1:p.Glu3416=
XM_011522537.1:c.9424G=	XP_011520839.1:p.Glu3142=
XR_932867.1:n.12264G=
XM_005255370.3:c.9301G=	XP_005255427.1:p.Glu3101=
XM_011522528.3:c.12400G=	XP_011520830.1:p.Glu4134=
XM_011522529.2:c.12397G=	XP_011520831.1:p.Glu4133=
XM_011522537.2:c.9424G=	XP_011520839.1:p.Glu3142=
XM_024450298.1:c.12466G=	XP_024306066.1:p.Glu4156=
XM_024450299.1:c.12394G=	XP_024306067.1:p.Glu4132=
XM_024450300.1:c.12256G=	XP_024306068.1:p.Glu4086=
XM_024450301.1:c.10342G=	XP_024306069.1:p.Glu3448=
NM_000296.4:c.12343G=	NP_000287.4:p.Glu4115=
NM_001009944.3:c.12346G= MANE Select	NP_001009944.3:p.Glu4116=