Canonical Allele Identifier: CA7828652

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090320G>A , CM000678.2:g.2090320G>A	GRCh38
NC_000016.9:g.2140321G>A , CM000678.1:g.2140321G>A	GRCh37
NC_000016.8:g.2080322G>A	NCBI36
NG_005895.1:g.46015G>A , LRG_487:g.46015G>A
NG_008617.1:g.52901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12409C>T MANE Select	ENSP00000262304.4:p.Leu4137=
ENST00000262304.8:c.12409C>T	ENSP00000262304.4:p.Leu4137=
ENST00000423118.5:c.12406C>T	ENSP00000399501.1:p.Leu4136=
ENST00000472577.1:n.437C>T
NM_000296.3:c.12406C>T	NP_000287.3:p.Leu4136=
NM_001009944.2:c.12409C>T	NP_001009944.2:p.Leu4137=
XM_005255370.2:c.9364C>T	XP_005255427.1:p.Leu3122=
XM_011522525.1:c.12487C>T	XP_011520827.1:p.Leu4163=
XM_011522526.1:c.12484C>T	XP_011520828.1:p.Leu4162=
XM_011522527.1:c.12469C>T	XP_011520829.1:p.Leu4157=
XM_011522528.1:c.12463C>T	XP_011520830.1:p.Leu4155=
XM_011522529.1:c.12460C>T	XP_011520831.1:p.Leu4154=
XM_011522530.1:c.12433C>T	XP_011520832.1:p.Leu4145=
XM_011522531.1:c.12415C>T	XP_011520833.1:p.Leu4139=
XM_011522532.1:c.12361C>T	XP_011520834.1:p.Leu4121=
XM_011522533.1:c.12280C>T	XP_011520835.1:p.Leu4094=
XM_011522534.1:c.12223C>T	XP_011520836.1:p.Leu4075=
XM_011522535.1:c.10309C>T	XP_011520837.1:p.Leu3437=
XM_011522537.1:c.9487C>T	XP_011520839.1:p.Leu3163=
XR_932867.1:n.12327C>T
XM_005255370.3:c.9364C>T	XP_005255427.1:p.Leu3122=
XM_011522528.3:c.12463C>T	XP_011520830.1:p.Leu4155=
XM_011522529.2:c.12460C>T	XP_011520831.1:p.Leu4154=
XM_011522537.2:c.9487C>T	XP_011520839.1:p.Leu3163=
XM_024450298.1:c.12529C>T	XP_024306066.1:p.Leu4177=
XM_024450299.1:c.12457C>T	XP_024306067.1:p.Leu4153=
XM_024450300.1:c.12319C>T	XP_024306068.1:p.Leu4107=
XM_024450301.1:c.10405C>T	XP_024306069.1:p.Leu3469=
NM_000296.4:c.12406C>T	NP_000287.4:p.Leu4136=
NM_001009944.3:c.12409C>T MANE Select	NP_001009944.3:p.Leu4137=