Canonical Allele Identifier: CA394320360
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2089918G>A , CM000678.2:g.2089918G>A GRCh38
NC_000016.9:g.2139919G>A , CM000678.1:g.2139919G>A GRCh37
NC_000016.8:g.2079920G>A NCBI36
NG_005895.1:g.45613G>A , LRG_487:g.45613G>A
NG_008617.1:g.53303C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.12721C>T MANE Select NP_001009944.3:p.Gln4241Ter
ENST00000262304.9:c.12721C>T MANE Select ENSP00000262304.4:p.Gln4241Ter
NM_000296.3:c.12718C>T NP_000287.3:p.Gln4240Ter
NM_000296.4:c.12718C>T NP_000287.4:p.Gln4240Ter
NM_001009944.2:c.12721C>T NP_001009944.2:p.Gln4241Ter
ENST00000262304.8:c.12721C>T ENSP00000262304.4:p.Gln4241Ter
ENST00000423118.5:c.12718C>T ENSP00000399501.1:p.Gln4240Ter
ENST00000472577.1:n.749C>T
XM_005255370.2:c.9676C>T XP_005255427.1:p.Gln3226Ter
XM_005255370.3:c.9676C>T XP_005255427.1:p.Gln3226Ter
XM_011522525.1:c.12799C>T XP_011520827.1:p.Gln4267Ter
XM_011522526.1:c.12796C>T XP_011520828.1:p.Gln4266Ter
XM_011522527.1:c.12781C>T XP_011520829.1:p.Gln4261Ter
XM_011522528.1:c.12775C>T XP_011520830.1:p.Gln4259Ter
XM_011522528.3:c.12775C>T XP_011520830.1:p.Gln4259Ter
XM_011522529.1:c.12772C>T XP_011520831.1:p.Gln4258Ter
XM_011522529.2:c.12772C>T XP_011520831.1:p.Gln4258Ter
XM_011522530.1:c.12745C>T XP_011520832.1:p.Gln4249Ter
XM_011522531.1:c.12727C>T XP_011520833.1:p.Gln4243Ter
XM_011522532.1:c.12673C>T XP_011520834.1:p.Gln4225Ter
XM_011522533.1:c.12592C>T XP_011520835.1:p.Gln4198Ter
XM_011522534.1:c.12535C>T XP_011520836.1:p.Gln4179Ter
XM_011522535.1:c.10621C>T XP_011520837.1:p.Gln3541Ter
XM_011522537.1:c.9799C>T XP_011520839.1:p.Gln3267Ter
XM_011522537.2:c.9799C>T XP_011520839.1:p.Gln3267Ter
XM_024450298.1:c.12841C>T XP_024306066.1:p.Gln4281Ter
XM_024450299.1:c.12769C>T XP_024306067.1:p.Gln4257Ter
XM_024450300.1:c.12631C>T XP_024306068.1:p.Gln4211Ter
XM_024450301.1:c.10717C>T XP_024306069.1:p.Gln3573Ter