Canonical Allele Identifier: CA394341767
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094170G>A , CM000678.2:g.2094170G>A GRCh38
NC_000016.9:g.2144171G>A , CM000678.1:g.2144171G>A GRCh37
NC_000016.8:g.2084172G>A NCBI36
NG_008617.1:g.49051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10540C>T (PKD1) MANE Select ENSP00000262304.4:p.Gln3514Ter
ENST00000262304.8:c.10540C>T (PKD1) ENSP00000262304.4:p.Gln3514Ter
ENST00000423118.5:c.10537C>T (PKD1) ENSP00000399501.1:p.Gln3513Ter
ENST00000487932.5:c.5102C>T (PKD1) ENSP00000457132.1:n.5102C>T
NM_000296.3:c.10537C>T (PKD1) NP_000287.3:p.Gln3513Ter
NM_001009944.2:c.10540C>T (PKD1) NP_001009944.2:p.Gln3514Ter
XM_005255370.2:c.7495C>T (PKD1) XP_005255427.1:p.Gln2499Ter
XM_011522525.1:c.10618C>T (PKD1) XP_011520827.1:p.Gln3540Ter
XM_011522526.1:c.10615C>T (PKD1) XP_011520828.1:p.Gln3539Ter
XM_011522527.1:c.10600C>T (PKD1) XP_011520829.1:p.Gln3534Ter
XM_011522528.1:c.10594C>T (PKD1) XP_011520830.1:p.Gln3532Ter
XM_011522529.1:c.10591C>T (PKD1) XP_011520831.1:p.Gln3531Ter
XM_011522530.1:c.10564C>T (PKD1) XP_011520832.1:p.Gln3522Ter
XM_011522531.1:c.10546C>T (PKD1) XP_011520833.1:p.Gln3516Ter
XM_011522532.1:c.10492C>T (PKD1) XP_011520834.1:p.Gln3498Ter
XM_011522533.1:c.10411C>T (PKD1) XP_011520835.1:p.Gln3471Ter
XM_011522534.1:c.10354C>T (PKD1) XP_011520836.1:p.Gln3452Ter
XM_011522535.1:c.8440C>T (PKD1) XP_011520837.1:p.Gln2814Ter
XM_011522537.1:c.7618C>T (PKD1) XP_011520839.1:p.Gln2540Ter
XR_932867.1:n.10633C>T (PKD1)
XR_932868.1:n.10633C>T (PKD1)
XR_932869.1:n.10633C>T (PKD1)
XR_932870.1:n.10633C>T (PKD1)
XR_933000.1:n.214-508G>A (PKD1-AS1)
XR_933001.1:n.304-551G>A (PKD1-AS1)
XR_933002.1:n.213-508G>A (PKD1-AS1)
XR_933003.1:n.213-551G>A (PKD1-AS1)
NR_135175.1:n.304-551G>A (PKD1-AS1)
XM_005255370.3:c.7495C>T (PKD1) XP_005255427.1:p.Gln2499Ter
XM_011522528.3:c.10594C>T (PKD1) XP_011520830.1:p.Gln3532Ter
XM_011522529.2:c.10591C>T (PKD1) XP_011520831.1:p.Gln3531Ter
XM_011522537.2:c.7618C>T (PKD1) XP_011520839.1:p.Gln2540Ter
XM_024450298.1:c.10660C>T (PKD1) XP_024306066.1:p.Gln3554Ter
XM_024450299.1:c.10588C>T (PKD1) XP_024306067.1:p.Gln3530Ter
XM_024450300.1:c.10450C>T (PKD1) XP_024306068.1:p.Gln3484Ter
XM_024450301.1:c.8536C>T (PKD1) XP_024306069.1:p.Gln2846Ter
NM_000296.4:c.10537C>T (PKD1) NP_000287.4:p.Gln3513Ter
NM_001009944.3:c.10540C>T (PKD1) MANE Select NP_001009944.3:p.Gln3514Ter