Canonical Allele Identifier: CA493044206

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090327C>T , CM000678.2:g.2090327C>T	GRCh38
NC_000016.9:g.2140328C>T , CM000678.1:g.2140328C>T	GRCh37
NC_000016.8:g.2080329C>T	NCBI36
NG_005895.1:g.46022C>T , LRG_487:g.46022C>T
NG_008617.1:g.52894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12402G>A MANE Select	ENSP00000262304.4:p.Leu4134=
ENST00000262304.8:c.12402G>A	ENSP00000262304.4:p.Leu4134=
ENST00000423118.5:c.12399G>A	ENSP00000399501.1:p.Leu4133=
ENST00000472577.1:n.430G>A
NM_000296.3:c.12399G>A	NP_000287.3:p.Leu4133=
NM_001009944.2:c.12402G>A	NP_001009944.2:p.Leu4134=
XM_005255370.2:c.9357G>A	XP_005255427.1:p.Leu3119=
XM_011522525.1:c.12480G>A	XP_011520827.1:p.Leu4160=
XM_011522526.1:c.12477G>A	XP_011520828.1:p.Leu4159=
XM_011522527.1:c.12462G>A	XP_011520829.1:p.Leu4154=
XM_011522528.1:c.12456G>A	XP_011520830.1:p.Leu4152=
XM_011522529.1:c.12453G>A	XP_011520831.1:p.Leu4151=
XM_011522530.1:c.12426G>A	XP_011520832.1:p.Leu4142=
XM_011522531.1:c.12408G>A	XP_011520833.1:p.Leu4136=
XM_011522532.1:c.12354G>A	XP_011520834.1:p.Leu4118=
XM_011522533.1:c.12273G>A	XP_011520835.1:p.Leu4091=
XM_011522534.1:c.12216G>A	XP_011520836.1:p.Leu4072=
XM_011522535.1:c.10302G>A	XP_011520837.1:p.Leu3434=
XM_011522537.1:c.9480G>A	XP_011520839.1:p.Leu3160=
XR_932867.1:n.12320G>A
XM_005255370.3:c.9357G>A	XP_005255427.1:p.Leu3119=
XM_011522528.3:c.12456G>A	XP_011520830.1:p.Leu4152=
XM_011522529.2:c.12453G>A	XP_011520831.1:p.Leu4151=
XM_011522537.2:c.9480G>A	XP_011520839.1:p.Leu3160=
XM_024450298.1:c.12522G>A	XP_024306066.1:p.Leu4174=
XM_024450299.1:c.12450G>A	XP_024306067.1:p.Leu4150=
XM_024450300.1:c.12312G>A	XP_024306068.1:p.Leu4104=
XM_024450301.1:c.10398G>A	XP_024306069.1:p.Leu3466=
NM_000296.4:c.12399G>A	NP_000287.4:p.Leu4133=
NM_001009944.3:c.12402G>A MANE Select	NP_001009944.3:p.Leu4134=