Canonical Allele Identifier: CA394333218
Community Standard Title: NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091866C>A , CM000678.2:g.2091866C>A GRCh38
NC_000016.9:g.2141867C>A , CM000678.1:g.2141867C>A GRCh37
NC_000016.8:g.2081868C>A NCBI36
NG_008617.1:g.51355G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11452G>T (PKD1) MANE Select NP_001009944.3:p.Gly3818Cys
ENST00000262304.9:c.11452G>T (PKD1) MANE Select ENSP00000262304.4:p.Gly3818Cys
NM_000296.3:c.11449G>T (PKD1) NP_000287.3:p.Gly3817Cys
NM_000296.4:c.11449G>T (PKD1) NP_000287.4:p.Gly3817Cys
NM_001009944.2:c.11452G>T (PKD1) NP_001009944.2:p.Gly3818Cys
NR_135175.1:n.179+252C>A (PKD1-AS1)
ENST00000262304.8:c.11452G>T (PKD1) ENSP00000262304.4:p.Gly3818Cys
ENST00000423118.5:c.11449G>T (PKD1) ENSP00000399501.1:p.Gly3817Cys
ENST00000485120.1:n.441G>T (PKD1)
ENST00000487932.5:c.6014G>T (PKD1) ENSP00000457132.1:n.6014G>T
ENST00000561668.5:c.125-12G>T (PKD1)
ENST00000562425.1:c.565G>T (PKD1)
ENST00000564313.1:n.148G>T (PKD1)
XM_005255370.2:c.8407G>T (PKD1) XP_005255427.1:p.Gly2803Cys
XM_005255370.3:c.8407G>T (PKD1) XP_005255427.1:p.Gly2803Cys
XM_011522525.1:c.11530G>T (PKD1) XP_011520827.1:p.Gly3844Cys
XM_011522526.1:c.11527G>T (PKD1) XP_011520828.1:p.Gly3843Cys
XM_011522527.1:c.11512G>T (PKD1) XP_011520829.1:p.Gly3838Cys
XM_011522528.1:c.11506G>T (PKD1) XP_011520830.1:p.Gly3836Cys
XM_011522528.3:c.11506G>T (PKD1) XP_011520830.1:p.Gly3836Cys
XM_011522529.1:c.11503G>T (PKD1) XP_011520831.1:p.Gly3835Cys
XM_011522529.2:c.11503G>T (PKD1) XP_011520831.1:p.Gly3835Cys
XM_011522530.1:c.11476G>T (PKD1) XP_011520832.1:p.Gly3826Cys
XM_011522531.1:c.11458G>T (PKD1) XP_011520833.1:p.Gly3820Cys
XM_011522532.1:c.11404G>T (PKD1) XP_011520834.1:p.Gly3802Cys
XM_011522533.1:c.11323G>T (PKD1) XP_011520835.1:p.Gly3775Cys
XM_011522534.1:c.11266G>T (PKD1) XP_011520836.1:p.Gly3756Cys
XM_011522535.1:c.9352G>T (PKD1) XP_011520837.1:p.Gly3118Cys
XM_011522537.1:c.8530G>T (PKD1) XP_011520839.1:p.Gly2844Cys
XM_011522537.2:c.8530G>T (PKD1) XP_011520839.1:p.Gly2844Cys
XM_024450298.1:c.11572G>T (PKD1) XP_024306066.1:p.Gly3858Cys
XM_024450299.1:c.11500G>T (PKD1) XP_024306067.1:p.Gly3834Cys
XM_024450300.1:c.11362G>T (PKD1) XP_024306068.1:p.Gly3788Cys
XM_024450301.1:c.9448G>T (PKD1) XP_024306069.1:p.Gly3150Cys
XR_932867.1:n.11545G>T (PKD1)
XR_932868.1:n.11292G>T (PKD1)
XR_932869.1:n.11292G>T (PKD1)
XR_932870.1:n.11405G>T (PKD1)
XR_933000.1:n.89+252C>A (PKD1-AS1)
XR_933001.1:n.179+252C>A (PKD1-AS1)
XR_933002.1:n.88+258C>A (PKD1-AS1)
XR_933003.1:n.88+258C>A (PKD1-AS1)