Canonical Allele Identifier: CA394355932

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2100421C>G , CM000678.2:g.2100421C>G	GRCh38
NC_000016.9:g.2150422C>G , CM000678.1:g.2150422C>G	GRCh37
NC_000016.8:g.2090423C>G	NCBI36
NG_008617.1:g.42800G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.9543G>C MANE Select	NP_001009944.3:p.Lys3181Asn
ENST00000262304.9:c.9543G>C MANE Select	ENSP00000262304.4:p.Lys3181Asn
NM_000296.3:c.9543G>C	NP_000287.3:p.Lys3181Asn
NM_000296.4:c.9543G>C	NP_000287.4:p.Lys3181Asn
NM_001009944.2:c.9543G>C	NP_001009944.2:p.Lys3181Asn
ENST00000262304.8:c.9543G>C	ENSP00000262304.4:p.Lys3181Asn
ENST00000415938.7:n.2622G>C
ENST00000423118.5:c.9543G>C	ENSP00000399501.1:p.Lys3181Asn
ENST00000469851.1:n.266G>C
ENST00000471603.6:n.1187G>C
ENST00000480227.5:n.1280G>C
ENST00000483731.5:n.3429G>C
ENST00000483814.1:n.345G>C
ENST00000486339.6:n.3679G>C
ENST00000487932.5:c.4105G>C	ENSP00000457132.1:n.4105G>C
ENST00000496574.6:n.3779G>C
ENST00000562297.5:n.1276G>C
ENST00000566905.5:n.33G>C
ENST00000567946.1:c.1145G>C
XM_005255370.2:c.6498G>C	XP_005255427.1:p.Lys2166Asn
XM_005255370.3:c.6498G>C	XP_005255427.1:p.Lys2166Asn
XM_011522525.1:c.9621G>C	XP_011520827.1:p.Lys3207Asn
XM_011522526.1:c.9621G>C	XP_011520828.1:p.Lys3207Asn
XM_011522527.1:c.9603G>C	XP_011520829.1:p.Lys3201Asn
XM_011522528.1:c.9597G>C	XP_011520830.1:p.Lys3199Asn
XM_011522528.3:c.9597G>C	XP_011520830.1:p.Lys3199Asn
XM_011522529.1:c.9597G>C	XP_011520831.1:p.Lys3199Asn
XM_011522529.2:c.9597G>C	XP_011520831.1:p.Lys3199Asn
XM_011522530.1:c.9567G>C	XP_011520832.1:p.Lys3189Asn
XM_011522531.1:c.9549G>C	XP_011520833.1:p.Lys3183Asn
XM_011522532.1:c.9495G>C	XP_011520834.1:p.Lys3165Asn
XM_011522533.1:c.9414G>C	XP_011520835.1:p.Lys3138Asn
XM_011522534.1:c.9357G>C	XP_011520836.1:p.Lys3119Asn
XM_011522535.1:c.7443G>C	XP_011520837.1:p.Lys2481Asn
XM_011522536.1:c.9621G>C	XP_011520838.1:p.Lys3207Asn
XM_011522537.1:c.6621G>C	XP_011520839.1:p.Lys2207Asn
XM_011522537.2:c.6621G>C	XP_011520839.1:p.Lys2207Asn
XM_024450298.1:c.9663G>C	XP_024306066.1:p.Lys3221Asn
XM_024450299.1:c.9591G>C	XP_024306067.1:p.Lys3197Asn
XM_024450300.1:c.9453G>C	XP_024306068.1:p.Lys3151Asn
XM_024450301.1:c.7539G>C	XP_024306069.1:p.Lys2513Asn
XR_932867.1:n.9636G>C
XR_932868.1:n.9636G>C
XR_932869.1:n.9636G>C
XR_932870.1:n.9636G>C