Canonical Allele Identifier: CA119385
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090309C>T , CM000678.2:g.2090309C>T GRCh38
NC_000016.9:g.2140310C>T , CM000678.1:g.2140310C>T GRCh37
NC_000016.8:g.2080311C>T NCBI36
NG_005895.1:g.46004C>T , LRG_487:g.46004C>T
NG_008617.1:g.52912G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12420G>A MANE Select ENSP00000262304.4:p.Trp4140Ter
ENST00000262304.8:c.12420G>A ENSP00000262304.4:p.Trp4140Ter
ENST00000423118.5:c.12417G>A ENSP00000399501.1:p.Trp4139Ter
ENST00000472577.1:n.448G>A
NM_000296.3:c.12417G>A NP_000287.3:p.Trp4139Ter
NM_001009944.2:c.12420G>A NP_001009944.2:p.Trp4140Ter
XM_005255370.2:c.9375G>A XP_005255427.1:p.Trp3125Ter
XM_011522525.1:c.12498G>A XP_011520827.1:p.Trp4166Ter
XM_011522526.1:c.12495G>A XP_011520828.1:p.Trp4165Ter
XM_011522527.1:c.12480G>A XP_011520829.1:p.Trp4160Ter
XM_011522528.1:c.12474G>A XP_011520830.1:p.Trp4158Ter
XM_011522529.1:c.12471G>A XP_011520831.1:p.Trp4157Ter
XM_011522530.1:c.12444G>A XP_011520832.1:p.Trp4148Ter
XM_011522531.1:c.12426G>A XP_011520833.1:p.Trp4142Ter
XM_011522532.1:c.12372G>A XP_011520834.1:p.Trp4124Ter
XM_011522533.1:c.12291G>A XP_011520835.1:p.Trp4097Ter
XM_011522534.1:c.12234G>A XP_011520836.1:p.Trp4078Ter
XM_011522535.1:c.10320G>A XP_011520837.1:p.Trp3440Ter
XM_011522537.1:c.9498G>A XP_011520839.1:p.Trp3166Ter
XR_932867.1:n.12338G>A
XM_005255370.3:c.9375G>A XP_005255427.1:p.Trp3125Ter
XM_011522528.3:c.12474G>A XP_011520830.1:p.Trp4158Ter
XM_011522529.2:c.12471G>A XP_011520831.1:p.Trp4157Ter
XM_011522537.2:c.9498G>A XP_011520839.1:p.Trp3166Ter
XM_024450298.1:c.12540G>A XP_024306066.1:p.Trp4180Ter
XM_024450299.1:c.12468G>A XP_024306067.1:p.Trp4156Ter
XM_024450300.1:c.12330G>A XP_024306068.1:p.Trp4110Ter
XM_024450301.1:c.10416G>A XP_024306069.1:p.Trp3472Ter
NM_000296.4:c.12417G>A NP_000287.4:p.Trp4139Ter
NM_001009944.3:c.12420G>A MANE Select NP_001009944.3:p.Trp4140Ter