Canonical Allele Identifier: CA2202047554
Community Standard Title: NM_001009944.3(PKD1):c.3785A= (p.His1262=)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111382T= , CM000678.2:g.2111382T= GRCh38
NC_000016.9:g.2161383T= , CM000678.1:g.2161383T= GRCh37
NC_000016.8:g.2101384T= NCBI36
NG_008617.1:g.29517A=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.3785A= MANE Select NP_001009944.3:p.His1262=
ENST00000262304.9:c.3785A= MANE Select ENSP00000262304.4:p.His1262=
NM_000296.3:c.3785A= NP_000287.3:p.His1262=
NM_000296.4:c.3785A= NP_000287.4:p.His1262=
NM_001009944.2:c.3785A= NP_001009944.2:p.His1262=
ENST00000262304.8:c.3785A= ENSP00000262304.4:p.His1262=
ENST00000415938.7:n.310+958A=
ENST00000423118.5:c.3785A= ENSP00000399501.1:p.His1262=
ENST00000468674.5:n.430+958A=
ENST00000483024.1:c.233+434A=
ENST00000483731.5:n.790+958A=
ENST00000488185.2:c.473-3024A=
ENST00000565639.6:n.773+958A=
ENST00000568591.5:c.2226+958A= ENSP00000457162.1:n.2226+958A=
ENST00000569983.5:n.421+958A=
XM_005255370.2:c.740A= XP_005255427.1:p.His247=
XM_005255370.3:c.740A= XP_005255427.1:p.His247=
XM_011522525.1:c.3863A= XP_011520827.1:p.His1288=
XM_011522526.1:c.3863A= XP_011520828.1:p.His1288=
XM_011522527.1:c.3863A= XP_011520829.1:p.His1288=
XM_011522528.1:c.3839A= XP_011520830.1:p.His1280=
XM_011522528.3:c.3839A= XP_011520830.1:p.His1280=
XM_011522529.1:c.3839A= XP_011520831.1:p.His1280=
XM_011522529.2:c.3839A= XP_011520831.1:p.His1280=
XM_011522530.1:c.3809A= XP_011520832.1:p.His1270=
XM_011522531.1:c.3791A= XP_011520833.1:p.His1264=
XM_011522532.1:c.3737A= XP_011520834.1:p.His1246=
XM_011522533.1:c.3656A= XP_011520835.1:p.His1219=
XM_011522534.1:c.3599A= XP_011520836.1:p.His1200=
XM_011522535.1:c.1685A= XP_011520837.1:p.His562=
XM_011522536.1:c.3863A= XP_011520838.1:p.His1288=
XM_011522537.1:c.863A= XP_011520839.1:p.His288=
XM_011522537.2:c.863A= XP_011520839.1:p.His288=
XM_024450298.1:c.3905A= XP_024306066.1:p.His1302=
XM_024450299.1:c.3833A= XP_024306067.1:p.His1278=
XM_024450300.1:c.3695A= XP_024306068.1:p.His1232=
XM_024450301.1:c.1781A= XP_024306069.1:p.His594=
XR_932867.1:n.3878A=
XR_932868.1:n.3878A=
XR_932869.1:n.3878A=
XR_932870.1:n.3878A=