Canonical Allele Identifier: CA394333171
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091861G>C , CM000678.2:g.2091861G>C GRCh38
NC_000016.9:g.2141862G>C , CM000678.1:g.2141862G>C GRCh37
NC_000016.8:g.2081863G>C NCBI36
NG_008617.1:g.51360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11457C>G (PKD1) MANE Select ENSP00000262304.4:p.Tyr3819Ter
ENST00000262304.8:c.11457C>G (PKD1) ENSP00000262304.4:p.Tyr3819Ter
ENST00000423118.5:c.11454C>G (PKD1) ENSP00000399501.1:p.Tyr3818Ter
ENST00000485120.1:n.446C>G (PKD1)
ENST00000487932.5:c.6019C>G (PKD1) ENSP00000457132.1:n.6019C>G
ENST00000561668.5:c.125-7C>G (PKD1)
ENST00000562425.1:c.570C>G (PKD1)
ENST00000564313.1:n.153C>G (PKD1)
NM_000296.3:c.11454C>G (PKD1) NP_000287.3:p.Tyr3818Ter
NM_001009944.2:c.11457C>G (PKD1) NP_001009944.2:p.Tyr3819Ter
XM_005255370.2:c.8412C>G (PKD1) XP_005255427.1:p.Tyr2804Ter
XM_011522525.1:c.11535C>G (PKD1) XP_011520827.1:p.Tyr3845Ter
XM_011522526.1:c.11532C>G (PKD1) XP_011520828.1:p.Tyr3844Ter
XM_011522527.1:c.11517C>G (PKD1) XP_011520829.1:p.Tyr3839Ter
XM_011522528.1:c.11511C>G (PKD1) XP_011520830.1:p.Tyr3837Ter
XM_011522529.1:c.11508C>G (PKD1) XP_011520831.1:p.Tyr3836Ter
XM_011522530.1:c.11481C>G (PKD1) XP_011520832.1:p.Tyr3827Ter
XM_011522531.1:c.11463C>G (PKD1) XP_011520833.1:p.Tyr3821Ter
XM_011522532.1:c.11409C>G (PKD1) XP_011520834.1:p.Tyr3803Ter
XM_011522533.1:c.11328C>G (PKD1) XP_011520835.1:p.Tyr3776Ter
XM_011522534.1:c.11271C>G (PKD1) XP_011520836.1:p.Tyr3757Ter
XM_011522535.1:c.9357C>G (PKD1) XP_011520837.1:p.Tyr3119Ter
XM_011522537.1:c.8535C>G (PKD1) XP_011520839.1:p.Tyr2845Ter
XR_932867.1:n.11550C>G (PKD1)
XR_932868.1:n.11297C>G (PKD1)
XR_932869.1:n.11297C>G (PKD1)
XR_932870.1:n.11410C>G (PKD1)
XR_933000.1:n.89+247G>C (PKD1-AS1)
XR_933001.1:n.179+247G>C (PKD1-AS1)
XR_933002.1:n.88+253G>C (PKD1-AS1)
XR_933003.1:n.88+253G>C (PKD1-AS1)
NR_135175.1:n.179+247G>C (PKD1-AS1)
XM_005255370.3:c.8412C>G (PKD1) XP_005255427.1:p.Tyr2804Ter
XM_011522528.3:c.11511C>G (PKD1) XP_011520830.1:p.Tyr3837Ter
XM_011522529.2:c.11508C>G (PKD1) XP_011520831.1:p.Tyr3836Ter
XM_011522537.2:c.8535C>G (PKD1) XP_011520839.1:p.Tyr2845Ter
XM_024450298.1:c.11577C>G (PKD1) XP_024306066.1:p.Tyr3859Ter
XM_024450299.1:c.11505C>G (PKD1) XP_024306067.1:p.Tyr3835Ter
XM_024450300.1:c.11367C>G (PKD1) XP_024306068.1:p.Tyr3789Ter
XM_024450301.1:c.9453C>G (PKD1) XP_024306069.1:p.Tyr3151Ter
NM_000296.4:c.11454C>G (PKD1) NP_000287.4:p.Tyr3818Ter
NM_001009944.3:c.11457C>G (PKD1) MANE Select NP_001009944.3:p.Tyr3819Ter