Canonical Allele Identifier: CA394383682
Community Standard Title: NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2112433G>A , CM000678.2:g.2112433G>A GRCh38
NC_000016.9:g.2162434G>A , CM000678.1:g.2162434G>A GRCh37
NC_000016.8:g.2102435G>A NCBI36
NG_008617.1:g.28466C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.3202C>T MANE Select NP_001009944.3:p.Gln1068Ter
ENST00000262304.9:c.3202C>T MANE Select ENSP00000262304.4:p.Gln1068Ter
NM_000296.3:c.3202C>T NP_000287.3:p.Gln1068Ter
NM_000296.4:c.3202C>T NP_000287.4:p.Gln1068Ter
NM_001009944.2:c.3202C>T NP_001009944.2:p.Gln1068Ter
ENST00000262304.8:c.3202C>T ENSP00000262304.4:p.Gln1068Ter
ENST00000415938.7:n.217C>T
ENST00000423118.5:c.3202C>T ENSP00000399501.1:p.Gln1068Ter
ENST00000468674.5:n.337C>T
ENST00000469241.2:n.152C>T
ENST00000483024.1:c.84C>T
ENST00000483731.5:n.697C>T
ENST00000488185.2:c.473-4075C>T
ENST00000565639.6:n.680C>T
ENST00000568591.5:c.2133C>T ENSP00000457162.1:n.2133C>T
ENST00000569983.5:n.328C>T
XM_005255370.2:c.157C>T XP_005255427.1:p.Gln53Ter
XM_005255370.3:c.157C>T XP_005255427.1:p.Gln53Ter
XM_011522525.1:c.3280C>T XP_011520827.1:p.Gln1094Ter
XM_011522526.1:c.3280C>T XP_011520828.1:p.Gln1094Ter
XM_011522527.1:c.3280C>T XP_011520829.1:p.Gln1094Ter
XM_011522528.1:c.3256C>T XP_011520830.1:p.Gln1086Ter
XM_011522528.3:c.3256C>T XP_011520830.1:p.Gln1086Ter
XM_011522529.1:c.3256C>T XP_011520831.1:p.Gln1086Ter
XM_011522529.2:c.3256C>T XP_011520831.1:p.Gln1086Ter
XM_011522530.1:c.3226C>T XP_011520832.1:p.Gln1076Ter
XM_011522531.1:c.3208C>T XP_011520833.1:p.Gln1070Ter
XM_011522532.1:c.3154C>T XP_011520834.1:p.Gln1052Ter
XM_011522533.1:c.3073C>T XP_011520835.1:p.Gln1025Ter
XM_011522534.1:c.3016C>T XP_011520836.1:p.Gln1006Ter
XM_011522535.1:c.1102C>T XP_011520837.1:p.Gln368Ter
XM_011522536.1:c.3280C>T XP_011520838.1:p.Gln1094Ter
XM_011522537.1:c.280C>T XP_011520839.1:p.Gln94Ter
XM_011522537.2:c.280C>T XP_011520839.1:p.Gln94Ter
XM_024450298.1:c.3322C>T XP_024306066.1:p.Gln1108Ter
XM_024450299.1:c.3250C>T XP_024306067.1:p.Gln1084Ter
XM_024450300.1:c.3112C>T XP_024306068.1:p.Gln1038Ter
XM_024450301.1:c.1198C>T XP_024306069.1:p.Gln400Ter
XR_932867.1:n.3295C>T
XR_932868.1:n.3295C>T
XR_932869.1:n.3295C>T
XR_932870.1:n.3295C>T