Canonical Allele Identifier: CA2202041566

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090380G= , CM000678.2:g.2090380G=	GRCh38
NC_000016.9:g.2140381G= , CM000678.1:g.2140381G=	GRCh37
NC_000016.8:g.2080382G=	NCBI36
NG_005895.1:g.46075G= , LRG_487:g.46075G=
NG_008617.1:g.52841C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12349C= MANE Select	ENSP00000262304.4:p.Leu4117=
ENST00000262304.8:c.12349C=	ENSP00000262304.4:p.Leu4117=
ENST00000423118.5:c.12346C=	ENSP00000399501.1:p.Leu4116=
ENST00000472577.1:n.377C=
NM_000296.3:c.12346C=	NP_000287.3:p.Leu4116=
NM_001009944.2:c.12349C=	NP_001009944.2:p.Leu4117=
XM_005255370.2:c.9304C=	XP_005255427.1:p.Leu3102=
XM_011522525.1:c.12427C=	XP_011520827.1:p.Leu4143=
XM_011522526.1:c.12424C=	XP_011520828.1:p.Leu4142=
XM_011522527.1:c.12409C=	XP_011520829.1:p.Leu4137=
XM_011522528.1:c.12403C=	XP_011520830.1:p.Leu4135=
XM_011522529.1:c.12400C=	XP_011520831.1:p.Leu4134=
XM_011522530.1:c.12373C=	XP_011520832.1:p.Leu4125=
XM_011522531.1:c.12355C=	XP_011520833.1:p.Leu4119=
XM_011522532.1:c.12301C=	XP_011520834.1:p.Leu4101=
XM_011522533.1:c.12220C=	XP_011520835.1:p.Leu4074=
XM_011522534.1:c.12163C=	XP_011520836.1:p.Leu4055=
XM_011522535.1:c.10249C=	XP_011520837.1:p.Leu3417=
XM_011522537.1:c.9427C=	XP_011520839.1:p.Leu3143=
XR_932867.1:n.12267C=
XM_005255370.3:c.9304C=	XP_005255427.1:p.Leu3102=
XM_011522528.3:c.12403C=	XP_011520830.1:p.Leu4135=
XM_011522529.2:c.12400C=	XP_011520831.1:p.Leu4134=
XM_011522537.2:c.9427C=	XP_011520839.1:p.Leu3143=
XM_024450298.1:c.12469C=	XP_024306066.1:p.Leu4157=
XM_024450299.1:c.12397C=	XP_024306067.1:p.Leu4133=
XM_024450300.1:c.12259C=	XP_024306068.1:p.Leu4087=
XM_024450301.1:c.10345C=	XP_024306069.1:p.Leu3449=
NM_000296.4:c.12346C=	NP_000287.4:p.Leu4116=
NM_001009944.3:c.12349C= MANE Select	NP_001009944.3:p.Leu4117=