Canonical Allele Identifier: CA394373652

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108776T>G , CM000678.2:g.2108776T>G	GRCh38
NC_000016.9:g.2158777T>G , CM000678.1:g.2158777T>G	GRCh37
NC_000016.8:g.2098778T>G	NCBI36
NG_008617.1:g.32123A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.6391A>C MANE Select	NP_001009944.3:p.Ser2131Arg
ENST00000262304.9:c.6391A>C MANE Select	ENSP00000262304.4:p.Ser2131Arg
NM_000296.3:c.6391A>C	NP_000287.3:p.Ser2131Arg
NM_000296.4:c.6391A>C	NP_000287.4:p.Ser2131Arg
NM_001009944.2:c.6391A>C	NP_001009944.2:p.Ser2131Arg
ENST00000262304.8:c.6391A>C	ENSP00000262304.4:p.Ser2131Arg
ENST00000415938.7:n.311-1828A>C
ENST00000423118.5:c.6391A>C	ENSP00000399501.1:p.Ser2131Arg
ENST00000483024.1:c.234-1828A>C
ENST00000483731.5:n.791-1828A>C
ENST00000487932.5:c.1078A>C	ENSP00000457132.1:p.Ser360Arg
ENST00000488185.2:c.473-418A>C
ENST00000565639.6:n.774-1828A>C
ENST00000568591.5:c.2227-1828A>C	ENSP00000457162.1:n.2227-1828A>C
ENST00000569983.5:n.422-1828A>C
XM_005255370.2:c.3346A>C	XP_005255427.1:p.Ser1116Arg
XM_005255370.3:c.3346A>C	XP_005255427.1:p.Ser1116Arg
XM_011522525.1:c.6469A>C	XP_011520827.1:p.Ser2157Arg
XM_011522526.1:c.6469A>C	XP_011520828.1:p.Ser2157Arg
XM_011522527.1:c.6469A>C	XP_011520829.1:p.Ser2157Arg
XM_011522528.1:c.6445A>C	XP_011520830.1:p.Ser2149Arg
XM_011522528.3:c.6445A>C	XP_011520830.1:p.Ser2149Arg
XM_011522529.1:c.6445A>C	XP_011520831.1:p.Ser2149Arg
XM_011522529.2:c.6445A>C	XP_011520831.1:p.Ser2149Arg
XM_011522530.1:c.6415A>C	XP_011520832.1:p.Ser2139Arg
XM_011522531.1:c.6397A>C	XP_011520833.1:p.Ser2133Arg
XM_011522532.1:c.6343A>C	XP_011520834.1:p.Ser2115Arg
XM_011522533.1:c.6262A>C	XP_011520835.1:p.Ser2088Arg
XM_011522534.1:c.6205A>C	XP_011520836.1:p.Ser2069Arg
XM_011522535.1:c.4291A>C	XP_011520837.1:p.Ser1431Arg
XM_011522536.1:c.6469A>C	XP_011520838.1:p.Ser2157Arg
XM_011522537.1:c.3469A>C	XP_011520839.1:p.Ser1157Arg
XM_011522537.2:c.3469A>C	XP_011520839.1:p.Ser1157Arg
XM_024450298.1:c.6511A>C	XP_024306066.1:p.Ser2171Arg
XM_024450299.1:c.6439A>C	XP_024306067.1:p.Ser2147Arg
XM_024450300.1:c.6301A>C	XP_024306068.1:p.Ser2101Arg
XM_024450301.1:c.4387A>C	XP_024306069.1:p.Ser1463Arg
XR_932867.1:n.6484A>C
XR_932868.1:n.6484A>C
XR_932869.1:n.6484A>C
XR_932870.1:n.6484A>C