Canonical Allele Identifier: CA2202041830

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090461G= , CM000678.2:g.2090461G=	GRCh38
NC_000016.9:g.2140462G= , CM000678.1:g.2140462G=	GRCh37
NC_000016.8:g.2080463G=	NCBI36
NG_005895.1:g.46156G= , LRG_487:g.46156G=
NG_008617.1:g.52760C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12268C= MANE Select	ENSP00000262304.4:p.Leu4090=
ENST00000262304.8:c.12268C=	ENSP00000262304.4:p.Leu4090=
ENST00000423118.5:c.12265C=	ENSP00000399501.1:p.Leu4089=
ENST00000472577.1:n.296C=
NM_000296.3:c.12265C=	NP_000287.3:p.Leu4089=
NM_001009944.2:c.12268C=	NP_001009944.2:p.Leu4090=
XM_005255370.2:c.9223C=	XP_005255427.1:p.Leu3075=
XM_011522525.1:c.12346C=	XP_011520827.1:p.Leu4116=
XM_011522526.1:c.12343C=	XP_011520828.1:p.Leu4115=
XM_011522527.1:c.12328C=	XP_011520829.1:p.Leu4110=
XM_011522528.1:c.12322C=	XP_011520830.1:p.Leu4108=
XM_011522529.1:c.12319C=	XP_011520831.1:p.Leu4107=
XM_011522530.1:c.12292C=	XP_011520832.1:p.Leu4098=
XM_011522531.1:c.12274C=	XP_011520833.1:p.Leu4092=
XM_011522532.1:c.12220C=	XP_011520834.1:p.Leu4074=
XM_011522533.1:c.12139C=	XP_011520835.1:p.Leu4047=
XM_011522534.1:c.12082C=	XP_011520836.1:p.Leu4028=
XM_011522535.1:c.10168C=	XP_011520837.1:p.Leu3390=
XM_011522537.1:c.9346C=	XP_011520839.1:p.Leu3116=
XR_932867.1:n.12186C=
XM_005255370.3:c.9223C=	XP_005255427.1:p.Leu3075=
XM_011522528.3:c.12322C=	XP_011520830.1:p.Leu4108=
XM_011522529.2:c.12319C=	XP_011520831.1:p.Leu4107=
XM_011522537.2:c.9346C=	XP_011520839.1:p.Leu3116=
XM_024450298.1:c.12388C=	XP_024306066.1:p.Leu4130=
XM_024450299.1:c.12316C=	XP_024306067.1:p.Leu4106=
XM_024450300.1:c.12178C=	XP_024306068.1:p.Leu4060=
XM_024450301.1:c.10264C=	XP_024306069.1:p.Leu3422=
NM_000296.4:c.12265C=	NP_000287.4:p.Leu4089=
NM_001009944.3:c.12268C= MANE Select	NP_001009944.3:p.Leu4090=