Canonical Allele Identifier: CA2202041983

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090530G= , CM000678.2:g.2090530G=	GRCh38
NC_000016.9:g.2140531G= , CM000678.1:g.2140531G=	GRCh37
NC_000016.8:g.2080532G=	NCBI36
NG_005895.1:g.46225G= , LRG_487:g.46225G=
NG_008617.1:g.52691C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12199C= MANE Select	ENSP00000262304.4:p.Pro4067=
ENST00000262304.8:c.12199C=	ENSP00000262304.4:p.Pro4067=
ENST00000423118.5:c.12196C=	ENSP00000399501.1:p.Pro4066=
ENST00000472577.1:n.227C=
NM_000296.3:c.12196C=	NP_000287.3:p.Pro4066=
NM_001009944.2:c.12199C=	NP_001009944.2:p.Pro4067=
XM_005255370.2:c.9154C=	XP_005255427.1:p.Pro3052=
XM_011522525.1:c.12277C=	XP_011520827.1:p.Pro4093=
XM_011522526.1:c.12274C=	XP_011520828.1:p.Pro4092=
XM_011522527.1:c.12259C=	XP_011520829.1:p.Pro4087=
XM_011522528.1:c.12253C=	XP_011520830.1:p.Pro4085=
XM_011522529.1:c.12250C=	XP_011520831.1:p.Pro4084=
XM_011522530.1:c.12223C=	XP_011520832.1:p.Pro4075=
XM_011522531.1:c.12205C=	XP_011520833.1:p.Pro4069=
XM_011522532.1:c.12151C=	XP_011520834.1:p.Pro4051=
XM_011522533.1:c.12070C=	XP_011520835.1:p.Pro4024=
XM_011522534.1:c.12013C=	XP_011520836.1:p.Pro4005=
XM_011522535.1:c.10099C=	XP_011520837.1:p.Pro3367=
XM_011522537.1:c.9277C=	XP_011520839.1:p.Pro3093=
XR_932867.1:n.12117C=
XM_005255370.3:c.9154C=	XP_005255427.1:p.Pro3052=
XM_011522528.3:c.12253C=	XP_011520830.1:p.Pro4085=
XM_011522529.2:c.12250C=	XP_011520831.1:p.Pro4084=
XM_011522537.2:c.9277C=	XP_011520839.1:p.Pro3093=
XM_024450298.1:c.12319C=	XP_024306066.1:p.Pro4107=
XM_024450299.1:c.12247C=	XP_024306067.1:p.Pro4083=
XM_024450300.1:c.12109C=	XP_024306068.1:p.Pro4037=
XM_024450301.1:c.10195C=	XP_024306069.1:p.Pro3399=
NM_000296.4:c.12196C=	NP_000287.4:p.Pro4066=
NM_001009944.3:c.12199C= MANE Select	NP_001009944.3:p.Pro4067=