Canonical Allele Identifier: CA7830167

Gene: PKD1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2102386A>G , CM000678.2:g.2102386A>G	GRCh38
NC_000016.9:g.2152387A>G , CM000678.1:g.2152387A>G	GRCh37
NC_000016.8:g.2092388A>G	NCBI36
NG_008617.1:g.40835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.9196T>C MANE Select	ENSP00000262304.4:p.Phe3066Leu
ENST00000262304.8:c.9196T>C	ENSP00000262304.4:p.Phe3066Leu
ENST00000415938.7:n.2275T>C
ENST00000423118.5:c.9196T>C	ENSP00000399501.1:p.Phe3066Leu
ENST00000471603.6:n.840T>C
ENST00000474088.1:n.612T>C
ENST00000475889.1:n.505T>C
ENST00000480227.5:n.933T>C
ENST00000483731.5:n.3082T>C
ENST00000486339.6:n.3332T>C
ENST00000487932.5:c.3758T>C	ENSP00000457132.1:n.3758T>C
ENST00000496574.6:n.3432T>C
ENST00000562297.5:n.929T>C
ENST00000567946.1:c.798T>C
NM_000296.3:c.9196T>C	NP_000287.3:p.Phe3066Leu
NM_001009944.2:c.9196T>C	NP_001009944.2:p.Phe3066Leu
XM_005255370.2:c.6151T>C	XP_005255427.1:p.Phe2051Leu
XM_011522525.1:c.9274T>C	XP_011520827.1:p.Phe3092Leu
XM_011522526.1:c.9274T>C	XP_011520828.1:p.Phe3092Leu
XM_011522527.1:c.9261+13T>C	XP_011520829.1:n.9261+13T>C
XM_011522528.1:c.9250T>C	XP_011520830.1:p.Phe3084Leu
XM_011522529.1:c.9250T>C	XP_011520831.1:p.Phe3084Leu
XM_011522530.1:c.9220T>C	XP_011520832.1:p.Phe3074Leu
XM_011522531.1:c.9202T>C	XP_011520833.1:p.Phe3068Leu
XM_011522532.1:c.9148T>C	XP_011520834.1:p.Phe3050Leu
XM_011522533.1:c.9067T>C	XP_011520835.1:p.Phe3023Leu
XM_011522534.1:c.9010T>C	XP_011520836.1:p.Phe3004Leu
XM_011522535.1:c.7096T>C	XP_011520837.1:p.Phe2366Leu
XM_011522536.1:c.9274T>C	XP_011520838.1:p.Phe3092Leu
XM_011522537.1:c.6274T>C	XP_011520839.1:p.Phe2092Leu
XR_932867.1:n.9289T>C
XR_932868.1:n.9289T>C
XR_932869.1:n.9289T>C
XR_932870.1:n.9289T>C
XM_005255370.3:c.6151T>C	XP_005255427.1:p.Phe2051Leu
XM_011522528.3:c.9250T>C	XP_011520830.1:p.Phe3084Leu
XM_011522529.2:c.9250T>C	XP_011520831.1:p.Phe3084Leu
XM_011522537.2:c.6274T>C	XP_011520839.1:p.Phe2092Leu
XM_024450298.1:c.9316T>C	XP_024306066.1:p.Phe3106Leu
XM_024450299.1:c.9244T>C	XP_024306067.1:p.Phe3082Leu
XM_024450300.1:c.9106T>C	XP_024306068.1:p.Phe3036Leu
XM_024450301.1:c.7192T>C	XP_024306069.1:p.Phe2398Leu
NM_000296.4:c.9196T>C	NP_000287.4:p.Phe3066Leu
NM_001009944.3:c.9196T>C MANE Select	NP_001009944.3:p.Phe3066Leu