Canonical Allele Identifier: CA394325650
Gene: PKD1 HGNC NCBI

Linked Data

gnomAD v4: 16-2090436-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090436G>A , CM000678.2:g.2090436G>A GRCh38
NC_000016.9:g.2140437G>A , CM000678.1:g.2140437G>A GRCh37
NC_000016.8:g.2080438G>A NCBI36
NG_005895.1:g.46131G>A , LRG_487:g.46131G>A
NG_008617.1:g.52785C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12293C>T MANE Select ENSP00000262304.4:p.Ala4098Val
ENST00000262304.8:c.12293C>T ENSP00000262304.4:p.Ala4098Val
ENST00000423118.5:c.12290C>T ENSP00000399501.1:p.Ala4097Val
ENST00000472577.1:n.321C>T
NM_000296.3:c.12290C>T NP_000287.3:p.Ala4097Val
NM_001009944.2:c.12293C>T NP_001009944.2:p.Ala4098Val
XM_005255370.2:c.9248C>T XP_005255427.1:p.Ala3083Val
XM_011522525.1:c.12371C>T XP_011520827.1:p.Ala4124Val
XM_011522526.1:c.12368C>T XP_011520828.1:p.Ala4123Val
XM_011522527.1:c.12353C>T XP_011520829.1:p.Ala4118Val
XM_011522528.1:c.12347C>T XP_011520830.1:p.Ala4116Val
XM_011522529.1:c.12344C>T XP_011520831.1:p.Ala4115Val
XM_011522530.1:c.12317C>T XP_011520832.1:p.Ala4106Val
XM_011522531.1:c.12299C>T XP_011520833.1:p.Ala4100Val
XM_011522532.1:c.12245C>T XP_011520834.1:p.Ala4082Val
XM_011522533.1:c.12164C>T XP_011520835.1:p.Ala4055Val
XM_011522534.1:c.12107C>T XP_011520836.1:p.Ala4036Val
XM_011522535.1:c.10193C>T XP_011520837.1:p.Ala3398Val
XM_011522537.1:c.9371C>T XP_011520839.1:p.Ala3124Val
XR_932867.1:n.12211C>T
XM_005255370.3:c.9248C>T XP_005255427.1:p.Ala3083Val
XM_011522528.3:c.12347C>T XP_011520830.1:p.Ala4116Val
XM_011522529.2:c.12344C>T XP_011520831.1:p.Ala4115Val
XM_011522537.2:c.9371C>T XP_011520839.1:p.Ala3124Val
XM_024450298.1:c.12413C>T XP_024306066.1:p.Ala4138Val
XM_024450299.1:c.12341C>T XP_024306067.1:p.Ala4114Val
XM_024450300.1:c.12203C>T XP_024306068.1:p.Ala4068Val
XM_024450301.1:c.10289C>T XP_024306069.1:p.Ala3430Val
NM_000296.4:c.12290C>T NP_000287.4:p.Ala4097Val
NM_001009944.3:c.12293C>T MANE Select NP_001009944.3:p.Ala4098Val