Canonical Allele Identifier: CA394355929
Community Standard Title: NM_001009944.3(PKD1):c.9543G>T (p.Lys3181Asn)
Gene: PKD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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