Canonical Allele Identifier: CA394328003

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090776C>T , CM000678.2:g.2090776C>T	GRCh38
NC_000016.9:g.2140777C>T , CM000678.1:g.2140777C>T	GRCh37
NC_000016.8:g.2080778C>T	NCBI36
NG_005895.1:g.46471C>T , LRG_487:g.46471C>T
NG_008617.1:g.52445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12036G>A MANE Select	ENSP00000262304.4:p.Trp4012Ter
ENST00000262304.8:c.12036G>A	ENSP00000262304.4:p.Trp4012Ter
ENST00000423118.5:c.12033G>A	ENSP00000399501.1:p.Trp4011Ter
ENST00000472577.1:n.64G>A
ENST00000564313.1:n.557G>A
NM_000296.3:c.12033G>A	NP_000287.3:p.Trp4011Ter
NM_001009944.2:c.12036G>A	NP_001009944.2:p.Trp4012Ter
XM_005255370.2:c.8991G>A	XP_005255427.1:p.Trp2997Ter
XM_011522525.1:c.12114G>A	XP_011520827.1:p.Trp4038Ter
XM_011522526.1:c.12111G>A	XP_011520828.1:p.Trp4037Ter
XM_011522527.1:c.12096G>A	XP_011520829.1:p.Trp4032Ter
XM_011522528.1:c.12090G>A	XP_011520830.1:p.Trp4030Ter
XM_011522529.1:c.12087G>A	XP_011520831.1:p.Trp4029Ter
XM_011522530.1:c.12060G>A	XP_011520832.1:p.Trp4020Ter
XM_011522531.1:c.12042G>A	XP_011520833.1:p.Trp4014Ter
XM_011522532.1:c.11988G>A	XP_011520834.1:p.Trp3996Ter
XM_011522533.1:c.11907G>A	XP_011520835.1:p.Trp3969Ter
XM_011522534.1:c.11850G>A	XP_011520836.1:p.Trp3950Ter
XM_011522535.1:c.9936G>A	XP_011520837.1:p.Trp3312Ter
XM_011522537.1:c.9114G>A	XP_011520839.1:p.Trp3038Ter
XR_932867.1:n.11954G>A
XR_932869.1:n.11701G>A
XM_005255370.3:c.8991G>A	XP_005255427.1:p.Trp2997Ter
XM_011522528.3:c.12090G>A	XP_011520830.1:p.Trp4030Ter
XM_011522529.2:c.12087G>A	XP_011520831.1:p.Trp4029Ter
XM_011522537.2:c.9114G>A	XP_011520839.1:p.Trp3038Ter
XM_024450298.1:c.12156G>A	XP_024306066.1:p.Trp4052Ter
XM_024450299.1:c.12084G>A	XP_024306067.1:p.Trp4028Ter
XM_024450300.1:c.11946G>A	XP_024306068.1:p.Trp3982Ter
XM_024450301.1:c.10032G>A	XP_024306069.1:p.Trp3344Ter
NM_000296.4:c.12033G>A	NP_000287.4:p.Trp4011Ter
NM_001009944.3:c.12036G>A MANE Select	NP_001009944.3:p.Trp4012Ter