Canonical Allele Identifier: CA7828929

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090926G>A , CM000678.2:g.2090926G>A	GRCh38
NC_000016.9:g.2140927G>A , CM000678.1:g.2140927G>A	GRCh37
NC_000016.8:g.2080928G>A	NCBI36
NG_005895.1:g.46621G>A , LRG_487:g.46621G>A
NG_008617.1:g.52295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11961C>T MANE Select	ENSP00000262304.4:p.Ala3987=
ENST00000262304.8:c.11961C>T	ENSP00000262304.4:p.Ala3987=
ENST00000423118.5:c.11958C>T	ENSP00000399501.1:p.Ala3986=
ENST00000561668.5:c.622C>T
ENST00000564313.1:n.482C>T
NM_000296.3:c.11958C>T	NP_000287.3:p.Ala3986=
NM_001009944.2:c.11961C>T	NP_001009944.2:p.Ala3987=
XM_005255370.2:c.8916C>T	XP_005255427.1:p.Ala2972=
XM_011522525.1:c.12039C>T	XP_011520827.1:p.Ala4013=
XM_011522526.1:c.12036C>T	XP_011520828.1:p.Ala4012=
XM_011522527.1:c.12021C>T	XP_011520829.1:p.Ala4007=
XM_011522528.1:c.12015C>T	XP_011520830.1:p.Ala4005=
XM_011522529.1:c.12012C>T	XP_011520831.1:p.Ala4004=
XM_011522530.1:c.11985C>T	XP_011520832.1:p.Ala3995=
XM_011522531.1:c.11967C>T	XP_011520833.1:p.Ala3989=
XM_011522532.1:c.11913C>T	XP_011520834.1:p.Ala3971=
XM_011522533.1:c.11832C>T	XP_011520835.1:p.Ala3944=
XM_011522534.1:c.11775C>T	XP_011520836.1:p.Ala3925=
XM_011522535.1:c.9861C>T	XP_011520837.1:p.Ala3287=
XM_011522537.1:c.9039C>T	XP_011520839.1:p.Ala3013=
XR_932867.1:n.11879C>T
XR_932869.1:n.11626C>T
XM_005255370.3:c.8916C>T	XP_005255427.1:p.Ala2972=
XM_011522528.3:c.12015C>T	XP_011520830.1:p.Ala4005=
XM_011522529.2:c.12012C>T	XP_011520831.1:p.Ala4004=
XM_011522537.2:c.9039C>T	XP_011520839.1:p.Ala3013=
XM_024450298.1:c.12081C>T	XP_024306066.1:p.Ala4027=
XM_024450299.1:c.12009C>T	XP_024306067.1:p.Ala4003=
XM_024450300.1:c.11871C>T	XP_024306068.1:p.Ala3957=
XM_024450301.1:c.9957C>T	XP_024306069.1:p.Ala3319=
NM_000296.4:c.11958C>T	NP_000287.4:p.Ala3986=
NM_001009944.3:c.11961C>T MANE Select	NP_001009944.3:p.Ala3987=