Canonical Allele Identifier: CA394358495

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2102397A>G , CM000678.2:g.2102397A>G	GRCh38
NC_000016.9:g.2152398A>G , CM000678.1:g.2152398A>G	GRCh37
NC_000016.8:g.2092399A>G	NCBI36
NG_008617.1:g.40824T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.9185T>C MANE Select	NP_001009944.3:p.Val3062Ala
ENST00000262304.9:c.9185T>C MANE Select	ENSP00000262304.4:p.Val3062Ala
NM_000296.3:c.9185T>C	NP_000287.3:p.Val3062Ala
NM_000296.4:c.9185T>C	NP_000287.4:p.Val3062Ala
NM_001009944.2:c.9185T>C	NP_001009944.2:p.Val3062Ala
ENST00000262304.8:c.9185T>C	ENSP00000262304.4:p.Val3062Ala
ENST00000415938.7:n.2264T>C
ENST00000423118.5:c.9185T>C	ENSP00000399501.1:p.Val3062Ala
ENST00000471603.6:n.829T>C
ENST00000474088.1:n.601T>C
ENST00000475889.1:n.494T>C
ENST00000480227.5:n.922T>C
ENST00000483731.5:n.3071T>C
ENST00000486339.6:n.3321T>C
ENST00000487932.5:c.3747T>C	ENSP00000457132.1:n.3747T>C
ENST00000496574.6:n.3421T>C
ENST00000562297.5:n.918T>C
ENST00000567946.1:c.787T>C
XM_005255370.2:c.6140T>C	XP_005255427.1:p.Val2047Ala
XM_005255370.3:c.6140T>C	XP_005255427.1:p.Val2047Ala
XM_011522525.1:c.9263T>C	XP_011520827.1:p.Val3088Ala
XM_011522526.1:c.9263T>C	XP_011520828.1:p.Val3088Ala
XM_011522527.1:c.9261+2T>C	XP_011520829.1:n.9261+2T>C
XM_011522528.1:c.9239T>C	XP_011520830.1:p.Val3080Ala
XM_011522528.3:c.9239T>C	XP_011520830.1:p.Val3080Ala
XM_011522529.1:c.9239T>C	XP_011520831.1:p.Val3080Ala
XM_011522529.2:c.9239T>C	XP_011520831.1:p.Val3080Ala
XM_011522530.1:c.9209T>C	XP_011520832.1:p.Val3070Ala
XM_011522531.1:c.9191T>C	XP_011520833.1:p.Val3064Ala
XM_011522532.1:c.9137T>C	XP_011520834.1:p.Val3046Ala
XM_011522533.1:c.9056T>C	XP_011520835.1:p.Val3019Ala
XM_011522534.1:c.8999T>C	XP_011520836.1:p.Val3000Ala
XM_011522535.1:c.7085T>C	XP_011520837.1:p.Val2362Ala
XM_011522536.1:c.9263T>C	XP_011520838.1:p.Val3088Ala
XM_011522537.1:c.6263T>C	XP_011520839.1:p.Val2088Ala
XM_011522537.2:c.6263T>C	XP_011520839.1:p.Val2088Ala
XM_024450298.1:c.9305T>C	XP_024306066.1:p.Val3102Ala
XM_024450299.1:c.9233T>C	XP_024306067.1:p.Val3078Ala
XM_024450300.1:c.9095T>C	XP_024306068.1:p.Val3032Ala
XM_024450301.1:c.7181T>C	XP_024306069.1:p.Val2394Ala
XR_932867.1:n.9278T>C
XR_932868.1:n.9278T>C
XR_932869.1:n.9278T>C
XR_932870.1:n.9278T>C