Canonical Allele Identifier: CA394321620

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090015A>T , CM000678.2:g.2090015A>T	GRCh38
NC_000016.9:g.2140016A>T , CM000678.1:g.2140016A>T	GRCh37
NC_000016.8:g.2080017A>T	NCBI36
NG_005895.1:g.45710A>T , LRG_487:g.45710A>T
NG_008617.1:g.53206T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12624T>A MANE Select	ENSP00000262304.4:p.Cys4208Ter
ENST00000262304.8:c.12624T>A	ENSP00000262304.4:p.Cys4208Ter
ENST00000423118.5:c.12621T>A	ENSP00000399501.1:p.Cys4207Ter
ENST00000472577.1:n.652T>A
NM_000296.3:c.12621T>A	NP_000287.3:p.Cys4207Ter
NM_001009944.2:c.12624T>A	NP_001009944.2:p.Cys4208Ter
XM_005255370.2:c.9579T>A	XP_005255427.1:p.Cys3193Ter
XM_011522525.1:c.12702T>A	XP_011520827.1:p.Cys4234Ter
XM_011522526.1:c.12699T>A	XP_011520828.1:p.Cys4233Ter
XM_011522527.1:c.12684T>A	XP_011520829.1:p.Cys4228Ter
XM_011522528.1:c.12678T>A	XP_011520830.1:p.Cys4226Ter
XM_011522529.1:c.12675T>A	XP_011520831.1:p.Cys4225Ter
XM_011522530.1:c.12648T>A	XP_011520832.1:p.Cys4216Ter
XM_011522531.1:c.12630T>A	XP_011520833.1:p.Cys4210Ter
XM_011522532.1:c.12576T>A	XP_011520834.1:p.Cys4192Ter
XM_011522533.1:c.12495T>A	XP_011520835.1:p.Cys4165Ter
XM_011522534.1:c.12438T>A	XP_011520836.1:p.Cys4146Ter
XM_011522535.1:c.10524T>A	XP_011520837.1:p.Cys3508Ter
XM_011522537.1:c.9702T>A	XP_011520839.1:p.Cys3234Ter
XR_932867.1:n.12542T>A
XM_005255370.3:c.9579T>A	XP_005255427.1:p.Cys3193Ter
XM_011522528.3:c.12678T>A	XP_011520830.1:p.Cys4226Ter
XM_011522529.2:c.12675T>A	XP_011520831.1:p.Cys4225Ter
XM_011522537.2:c.9702T>A	XP_011520839.1:p.Cys3234Ter
XM_024450298.1:c.12744T>A	XP_024306066.1:p.Cys4248Ter
XM_024450299.1:c.12672T>A	XP_024306067.1:p.Cys4224Ter
XM_024450300.1:c.12534T>A	XP_024306068.1:p.Cys4178Ter
XM_024450301.1:c.10620T>A	XP_024306069.1:p.Cys3540Ter
NM_000296.4:c.12621T>A	NP_000287.4:p.Cys4207Ter
NM_001009944.3:c.12624T>A MANE Select	NP_001009944.3:p.Cys4208Ter