Canonical Allele Identifier: CA394347915

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097870C>T , CM000678.2:g.2097870C>T	GRCh38
NC_000016.9:g.2147871C>T , CM000678.1:g.2147871C>T	GRCh37
NC_000016.8:g.2087872C>T	NCBI36
NG_008617.1:g.45351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10165G>A MANE Select	ENSP00000262304.4:p.Glu3389Lys
ENST00000262304.8:c.10165G>A	ENSP00000262304.4:p.Glu3389Lys
ENST00000415938.7:n.3244G>A
ENST00000423118.5:c.10165G>A	ENSP00000399501.1:p.Glu3389Lys
ENST00000483731.5:n.4051G>A
ENST00000486339.6:n.4301G>A
ENST00000487932.5:c.4727G>A	ENSP00000457132.1:n.4727G>A
ENST00000496574.6:n.4401G>A
ENST00000562297.5:n.1898G>A
ENST00000566784.5:n.482G>A
ENST00000566905.5:n.528G>A
ENST00000567946.1:c.1767G>A
ENST00000570253.5:n.461G>A
NM_000296.3:c.10165G>A	NP_000287.3:p.Glu3389Lys
NM_001009944.2:c.10165G>A	NP_001009944.2:p.Glu3389Lys
XM_005255370.2:c.7120G>A	XP_005255427.1:p.Glu2374Lys
XM_011522525.1:c.10243G>A	XP_011520827.1:p.Glu3415Lys
XM_011522526.1:c.10243G>A	XP_011520828.1:p.Glu3415Lys
XM_011522527.1:c.10225G>A	XP_011520829.1:p.Glu3409Lys
XM_011522528.1:c.10219G>A	XP_011520830.1:p.Glu3407Lys
XM_011522529.1:c.10219G>A	XP_011520831.1:p.Glu3407Lys
XM_011522530.1:c.10189G>A	XP_011520832.1:p.Glu3397Lys
XM_011522531.1:c.10171G>A	XP_011520833.1:p.Glu3391Lys
XM_011522532.1:c.10117G>A	XP_011520834.1:p.Glu3373Lys
XM_011522533.1:c.10036G>A	XP_011520835.1:p.Glu3346Lys
XM_011522534.1:c.9979G>A	XP_011520836.1:p.Glu3327Lys
XM_011522535.1:c.8065G>A	XP_011520837.1:p.Glu2689Lys
XM_011522537.1:c.7243G>A	XP_011520839.1:p.Glu2415Lys
XR_932867.1:n.10258G>A
XR_932868.1:n.10258G>A
XR_932869.1:n.10258G>A
XR_932870.1:n.10258G>A
XM_005255370.3:c.7120G>A	XP_005255427.1:p.Glu2374Lys
XM_011522528.3:c.10219G>A	XP_011520830.1:p.Glu3407Lys
XM_011522529.2:c.10219G>A	XP_011520831.1:p.Glu3407Lys
XM_011522537.2:c.7243G>A	XP_011520839.1:p.Glu2415Lys
XM_024450298.1:c.10285G>A	XP_024306066.1:p.Glu3429Lys
XM_024450299.1:c.10213G>A	XP_024306067.1:p.Glu3405Lys
XM_024450300.1:c.10075G>A	XP_024306068.1:p.Glu3359Lys
XM_024450301.1:c.8161G>A	XP_024306069.1:p.Glu2721Lys
NM_000296.4:c.10165G>A	NP_000287.4:p.Glu3389Lys
NM_001009944.3:c.10165G>A MANE Select	NP_001009944.3:p.Glu3389Lys