Canonical Allele Identifier: CA7828943

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090971G>A , CM000678.2:g.2090971G>A	GRCh38
NC_000016.9:g.2140972G>A , CM000678.1:g.2140972G>A	GRCh37
NC_000016.8:g.2080973G>A	NCBI36
NG_005895.1:g.46666G>A , LRG_487:g.46666G>A
NG_008617.1:g.52250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11916C>T MANE Select	ENSP00000262304.4:p.Arg3972=
ENST00000262304.8:c.11916C>T	ENSP00000262304.4:p.Arg3972=
ENST00000423118.5:c.11913C>T	ENSP00000399501.1:p.Arg3971=
ENST00000561668.5:c.577C>T
ENST00000564313.1:n.437C>T
NM_000296.3:c.11913C>T	NP_000287.3:p.Arg3971=
NM_001009944.2:c.11916C>T	NP_001009944.2:p.Arg3972=
XM_005255370.2:c.8871C>T	XP_005255427.1:p.Arg2957=
XM_011522525.1:c.11994C>T	XP_011520827.1:p.Arg3998=
XM_011522526.1:c.11991C>T	XP_011520828.1:p.Arg3997=
XM_011522527.1:c.11976C>T	XP_011520829.1:p.Arg3992=
XM_011522528.1:c.11970C>T	XP_011520830.1:p.Arg3990=
XM_011522529.1:c.11967C>T	XP_011520831.1:p.Arg3989=
XM_011522530.1:c.11940C>T	XP_011520832.1:p.Arg3980=
XM_011522531.1:c.11922C>T	XP_011520833.1:p.Arg3974=
XM_011522532.1:c.11868C>T	XP_011520834.1:p.Arg3956=
XM_011522533.1:c.11787C>T	XP_011520835.1:p.Arg3929=
XM_011522534.1:c.11730C>T	XP_011520836.1:p.Arg3910=
XM_011522535.1:c.9816C>T	XP_011520837.1:p.Arg3272=
XM_011522537.1:c.8994C>T	XP_011520839.1:p.Arg2998=
XR_932867.1:n.11834C>T
XR_932869.1:n.11581C>T
XM_005255370.3:c.8871C>T	XP_005255427.1:p.Arg2957=
XM_011522528.3:c.11970C>T	XP_011520830.1:p.Arg3990=
XM_011522529.2:c.11967C>T	XP_011520831.1:p.Arg3989=
XM_011522537.2:c.8994C>T	XP_011520839.1:p.Arg2998=
XM_024450298.1:c.12036C>T	XP_024306066.1:p.Arg4012=
XM_024450299.1:c.11964C>T	XP_024306067.1:p.Arg3988=
XM_024450300.1:c.11826C>T	XP_024306068.1:p.Arg3942=
XM_024450301.1:c.9912C>T	XP_024306069.1:p.Arg3304=
NM_000296.4:c.11913C>T	NP_000287.4:p.Arg3971=
NM_001009944.3:c.11916C>T MANE Select	NP_001009944.3:p.Arg3972=