Canonical Allele Identifier: CA2202018287
Community Standard Title: NM_001009944.3(PKD1):c.11512C= (p.Gln3838=)
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091806G= , CM000678.2:g.2091806G= GRCh38
NC_000016.9:g.2141807G= , CM000678.1:g.2141807G= GRCh37
NC_000016.8:g.2081808G= NCBI36
NG_008617.1:g.51415C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11512C= (PKD1) MANE Select NP_001009944.3:p.Gln3838=
ENST00000262304.9:c.11512C= (PKD1) MANE Select ENSP00000262304.4:p.Gln3838=
NM_000296.3:c.11509C= (PKD1) NP_000287.3:p.Gln3837=
NM_000296.4:c.11509C= (PKD1) NP_000287.4:p.Gln3837=
NM_001009944.2:c.11512C= (PKD1) NP_001009944.2:p.Gln3838=
NR_135175.1:n.179+192G= (PKD1-AS1)
ENST00000262304.8:c.11512C= (PKD1) ENSP00000262304.4:p.Gln3838=
ENST00000423118.5:c.11509C= (PKD1) ENSP00000399501.1:p.Gln3837=
ENST00000485120.1:n.501C= (PKD1)
ENST00000487932.5:c.6074C= (PKD1) ENSP00000457132.1:n.6074C=
ENST00000561668.5:c.173C= (PKD1)
ENST00000564313.1:n.208C= (PKD1)
XM_005255370.2:c.8467C= (PKD1) XP_005255427.1:p.Gln2823=
XM_005255370.3:c.8467C= (PKD1) XP_005255427.1:p.Gln2823=
XM_011522525.1:c.11590C= (PKD1) XP_011520827.1:p.Gln3864=
XM_011522526.1:c.11587C= (PKD1) XP_011520828.1:p.Gln3863=
XM_011522527.1:c.11572C= (PKD1) XP_011520829.1:p.Gln3858=
XM_011522528.1:c.11566C= (PKD1) XP_011520830.1:p.Gln3856=
XM_011522528.3:c.11566C= (PKD1) XP_011520830.1:p.Gln3856=
XM_011522529.1:c.11563C= (PKD1) XP_011520831.1:p.Gln3855=
XM_011522529.2:c.11563C= (PKD1) XP_011520831.1:p.Gln3855=
XM_011522530.1:c.11536C= (PKD1) XP_011520832.1:p.Gln3846=
XM_011522531.1:c.11518C= (PKD1) XP_011520833.1:p.Gln3840=
XM_011522532.1:c.11464C= (PKD1) XP_011520834.1:p.Gln3822=
XM_011522533.1:c.11383C= (PKD1) XP_011520835.1:p.Gln3795=
XM_011522534.1:c.11326C= (PKD1) XP_011520836.1:p.Gln3776=
XM_011522535.1:c.9412C= (PKD1) XP_011520837.1:p.Gln3138=
XM_011522537.1:c.8590C= (PKD1) XP_011520839.1:p.Gln2864=
XM_011522537.2:c.8590C= (PKD1) XP_011520839.1:p.Gln2864=
XM_024450298.1:c.11632C= (PKD1) XP_024306066.1:p.Gln3878=
XM_024450299.1:c.11560C= (PKD1) XP_024306067.1:p.Gln3854=
XM_024450300.1:c.11422C= (PKD1) XP_024306068.1:p.Gln3808=
XM_024450301.1:c.9508C= (PKD1) XP_024306069.1:p.Gln3170=
XR_932867.1:n.11605C= (PKD1)
XR_932868.1:n.11352C= (PKD1)
XR_932869.1:n.11352C= (PKD1)
XR_933000.1:n.89+192G= (PKD1-AS1)
XR_933001.1:n.179+192G= (PKD1-AS1)
XR_933002.1:n.88+198G= (PKD1-AS1)
XR_933003.1:n.88+198G= (PKD1-AS1)