Canonical Allele Identifier: CA2202041692

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090413G= , CM000678.2:g.2090413G=	GRCh38
NC_000016.9:g.2140414G= , CM000678.1:g.2140414G=	GRCh37
NC_000016.8:g.2080415G=	NCBI36
NG_005895.1:g.46108G= , LRG_487:g.46108G=
NG_008617.1:g.52808C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12316C= MANE Select	ENSP00000262304.4:p.Leu4106=
ENST00000262304.8:c.12316C=	ENSP00000262304.4:p.Leu4106=
ENST00000423118.5:c.12313C=	ENSP00000399501.1:p.Leu4105=
ENST00000472577.1:n.344C=
NM_000296.3:c.12313C=	NP_000287.3:p.Leu4105=
NM_001009944.2:c.12316C=	NP_001009944.2:p.Leu4106=
XM_005255370.2:c.9271C=	XP_005255427.1:p.Leu3091=
XM_011522525.1:c.12394C=	XP_011520827.1:p.Leu4132=
XM_011522526.1:c.12391C=	XP_011520828.1:p.Leu4131=
XM_011522527.1:c.12376C=	XP_011520829.1:p.Leu4126=
XM_011522528.1:c.12370C=	XP_011520830.1:p.Leu4124=
XM_011522529.1:c.12367C=	XP_011520831.1:p.Leu4123=
XM_011522530.1:c.12340C=	XP_011520832.1:p.Leu4114=
XM_011522531.1:c.12322C=	XP_011520833.1:p.Leu4108=
XM_011522532.1:c.12268C=	XP_011520834.1:p.Leu4090=
XM_011522533.1:c.12187C=	XP_011520835.1:p.Leu4063=
XM_011522534.1:c.12130C=	XP_011520836.1:p.Leu4044=
XM_011522535.1:c.10216C=	XP_011520837.1:p.Leu3406=
XM_011522537.1:c.9394C=	XP_011520839.1:p.Leu3132=
XR_932867.1:n.12234C=
XM_005255370.3:c.9271C=	XP_005255427.1:p.Leu3091=
XM_011522528.3:c.12370C=	XP_011520830.1:p.Leu4124=
XM_011522529.2:c.12367C=	XP_011520831.1:p.Leu4123=
XM_011522537.2:c.9394C=	XP_011520839.1:p.Leu3132=
XM_024450298.1:c.12436C=	XP_024306066.1:p.Leu4146=
XM_024450299.1:c.12364C=	XP_024306067.1:p.Leu4122=
XM_024450300.1:c.12226C=	XP_024306068.1:p.Leu4076=
XM_024450301.1:c.10312C=	XP_024306069.1:p.Leu3438=
NM_000296.4:c.12313C=	NP_000287.4:p.Leu4105=
NM_001009944.3:c.12316C= MANE Select	NP_001009944.3:p.Leu4106=