Canonical Allele Identifier: CA2202042432
Community Standard Title: NM_001009944.3(PKD1):c.9568G= (p.Gly3190=)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100396C= , CM000678.2:g.2100396C= GRCh38
NC_000016.9:g.2150397C= , CM000678.1:g.2150397C= GRCh37
NC_000016.8:g.2090398C= NCBI36
NG_008617.1:g.42825G=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9568G= MANE Select NP_001009944.3:p.Gly3190=
ENST00000262304.9:c.9568G= MANE Select ENSP00000262304.4:p.Gly3190=
NM_000296.3:c.9568G= NP_000287.3:p.Gly3190=
NM_000296.4:c.9568G= NP_000287.4:p.Gly3190=
NM_001009944.2:c.9568G= NP_001009944.2:p.Gly3190=
ENST00000262304.8:c.9568G= ENSP00000262304.4:p.Gly3190=
ENST00000415938.7:n.2647G=
ENST00000423118.5:c.9568G= ENSP00000399501.1:p.Gly3190=
ENST00000469851.1:n.291G=
ENST00000471603.6:n.1212G=
ENST00000480227.5:n.1305G=
ENST00000483731.5:n.3454G=
ENST00000483814.1:n.370G=
ENST00000486339.6:n.3704G=
ENST00000487932.5:c.4130G= ENSP00000457132.1:n.4130G=
ENST00000496574.6:n.3804G=
ENST00000562297.5:n.1301G=
ENST00000566905.5:n.58G=
ENST00000567946.1:c.1170G=
ENST00000570193.5:n.12G=
XM_005255370.2:c.6523G= XP_005255427.1:p.Gly2175=
XM_005255370.3:c.6523G= XP_005255427.1:p.Gly2175=
XM_011522525.1:c.9646G= XP_011520827.1:p.Gly3216=
XM_011522526.1:c.9646G= XP_011520828.1:p.Gly3216=
XM_011522527.1:c.9628G= XP_011520829.1:p.Gly3210=
XM_011522528.1:c.9622G= XP_011520830.1:p.Gly3208=
XM_011522528.3:c.9622G= XP_011520830.1:p.Gly3208=
XM_011522529.1:c.9622G= XP_011520831.1:p.Gly3208=
XM_011522529.2:c.9622G= XP_011520831.1:p.Gly3208=
XM_011522530.1:c.9592G= XP_011520832.1:p.Gly3198=
XM_011522531.1:c.9574G= XP_011520833.1:p.Gly3192=
XM_011522532.1:c.9520G= XP_011520834.1:p.Gly3174=
XM_011522533.1:c.9439G= XP_011520835.1:p.Gly3147=
XM_011522534.1:c.9382G= XP_011520836.1:p.Gly3128=
XM_011522535.1:c.7468G= XP_011520837.1:p.Gly2490=
XM_011522536.1:c.9646G= XP_011520838.1:p.Gly3216=
XM_011522537.1:c.6646G= XP_011520839.1:p.Gly2216=
XM_011522537.2:c.6646G= XP_011520839.1:p.Gly2216=
XM_024450298.1:c.9688G= XP_024306066.1:p.Gly3230=
XM_024450299.1:c.9616G= XP_024306067.1:p.Gly3206=
XM_024450300.1:c.9478G= XP_024306068.1:p.Gly3160=
XM_024450301.1:c.7564G= XP_024306069.1:p.Gly2522=
XR_932867.1:n.9661G=
XR_932868.1:n.9661G=
XR_932869.1:n.9661G=
XR_932870.1:n.9661G=