Canonical Allele Identifier: CA394325792
Gene: PKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1262028512
gnomAD v3: 16-2090454-G-A
gnomAD v4: 16-2090454-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090454G>A , CM000678.2:g.2090454G>A GRCh38
NC_000016.9:g.2140455G>A , CM000678.1:g.2140455G>A GRCh37
NC_000016.8:g.2080456G>A NCBI36
NG_005895.1:g.46149G>A , LRG_487:g.46149G>A
NG_008617.1:g.52767C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12275C>T MANE Select ENSP00000262304.4:p.Ala4092Val
ENST00000262304.8:c.12275C>T ENSP00000262304.4:p.Ala4092Val
ENST00000423118.5:c.12272C>T ENSP00000399501.1:p.Ala4091Val
ENST00000472577.1:n.303C>T
NM_000296.3:c.12272C>T NP_000287.3:p.Ala4091Val
NM_001009944.2:c.12275C>T NP_001009944.2:p.Ala4092Val
XM_005255370.2:c.9230C>T XP_005255427.1:p.Ala3077Val
XM_011522525.1:c.12353C>T XP_011520827.1:p.Ala4118Val
XM_011522526.1:c.12350C>T XP_011520828.1:p.Ala4117Val
XM_011522527.1:c.12335C>T XP_011520829.1:p.Ala4112Val
XM_011522528.1:c.12329C>T XP_011520830.1:p.Ala4110Val
XM_011522529.1:c.12326C>T XP_011520831.1:p.Ala4109Val
XM_011522530.1:c.12299C>T XP_011520832.1:p.Ala4100Val
XM_011522531.1:c.12281C>T XP_011520833.1:p.Ala4094Val
XM_011522532.1:c.12227C>T XP_011520834.1:p.Ala4076Val
XM_011522533.1:c.12146C>T XP_011520835.1:p.Ala4049Val
XM_011522534.1:c.12089C>T XP_011520836.1:p.Ala4030Val
XM_011522535.1:c.10175C>T XP_011520837.1:p.Ala3392Val
XM_011522537.1:c.9353C>T XP_011520839.1:p.Ala3118Val
XR_932867.1:n.12193C>T
XM_005255370.3:c.9230C>T XP_005255427.1:p.Ala3077Val
XM_011522528.3:c.12329C>T XP_011520830.1:p.Ala4110Val
XM_011522529.2:c.12326C>T XP_011520831.1:p.Ala4109Val
XM_011522537.2:c.9353C>T XP_011520839.1:p.Ala3118Val
XM_024450298.1:c.12395C>T XP_024306066.1:p.Ala4132Val
XM_024450299.1:c.12323C>T XP_024306067.1:p.Ala4108Val
XM_024450300.1:c.12185C>T XP_024306068.1:p.Ala4062Val
XM_024450301.1:c.10271C>T XP_024306069.1:p.Ala3424Val
NM_000296.4:c.12272C>T NP_000287.4:p.Ala4091Val
NM_001009944.3:c.12275C>T MANE Select NP_001009944.3:p.Ala4092Val