Canonical Allele Identifier: CA394336400
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 16-2092563-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092563T>A , CM000678.2:g.2092563T>A GRCh38
NC_000016.9:g.2142564T>A , CM000678.1:g.2142564T>A GRCh37
NC_000016.8:g.2082565T>A NCBI36
NG_008617.1:g.50658A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11186A>T (PKD1) MANE Select ENSP00000262304.4:p.His3729Leu
ENST00000262304.8:c.11186A>T (PKD1) ENSP00000262304.4:p.His3729Leu
ENST00000423118.5:c.11183A>T (PKD1) ENSP00000399501.1:p.His3728Leu
ENST00000485120.1:n.35A>T (PKD1)
ENST00000487932.5:c.5748A>T (PKD1) ENSP00000457132.1:n.5748A>T
ENST00000562425.1:c.299A>T (PKD1)
ENST00000567355.1:n.349A>T (PKD1)
NM_000296.3:c.11183A>T (PKD1) NP_000287.3:p.His3728Leu
NM_001009944.2:c.11186A>T (PKD1) NP_001009944.2:p.His3729Leu
XM_005255370.2:c.8141A>T (PKD1) XP_005255427.1:p.His2714Leu
XM_011522525.1:c.11264A>T (PKD1) XP_011520827.1:p.His3755Leu
XM_011522526.1:c.11261A>T (PKD1) XP_011520828.1:p.His3754Leu
XM_011522527.1:c.11246A>T (PKD1) XP_011520829.1:p.His3749Leu
XM_011522528.1:c.11240A>T (PKD1) XP_011520830.1:p.His3747Leu
XM_011522529.1:c.11237A>T (PKD1) XP_011520831.1:p.His3746Leu
XM_011522530.1:c.11210A>T (PKD1) XP_011520832.1:p.His3737Leu
XM_011522531.1:c.11192A>T (PKD1) XP_011520833.1:p.His3731Leu
XM_011522532.1:c.11138A>T (PKD1) XP_011520834.1:p.His3713Leu
XM_011522533.1:c.11057A>T (PKD1) XP_011520835.1:p.His3686Leu
XM_011522534.1:c.11000A>T (PKD1) XP_011520836.1:p.His3667Leu
XM_011522535.1:c.9086A>T (PKD1) XP_011520837.1:p.His3029Leu
XM_011522537.1:c.8264A>T (PKD1) XP_011520839.1:p.His2755Leu
XR_932867.1:n.11279A>T (PKD1)
XR_932868.1:n.11110-375A>T (PKD1)
XR_932869.1:n.11110-375A>T (PKD1)
XR_932870.1:n.11139A>T (PKD1)
XR_933000.1:n.90-326T>A (PKD1-AS1)
XR_933001.1:n.180-326T>A (PKD1-AS1)
XR_933002.1:n.89-326T>A (PKD1-AS1)
XR_933003.1:n.89-326T>A (PKD1-AS1)
NR_135175.1:n.180-326T>A (PKD1-AS1)
XM_005255370.3:c.8141A>T (PKD1) XP_005255427.1:p.His2714Leu
XM_011522528.3:c.11240A>T (PKD1) XP_011520830.1:p.His3747Leu
XM_011522529.2:c.11237A>T (PKD1) XP_011520831.1:p.His3746Leu
XM_011522537.2:c.8264A>T (PKD1) XP_011520839.1:p.His2755Leu
XM_024450298.1:c.11306A>T (PKD1) XP_024306066.1:p.His3769Leu
XM_024450299.1:c.11234A>T (PKD1) XP_024306067.1:p.His3745Leu
XM_024450300.1:c.11096A>T (PKD1) XP_024306068.1:p.His3699Leu
XM_024450301.1:c.9182A>T (PKD1) XP_024306069.1:p.His3061Leu
NM_000296.4:c.11183A>T (PKD1) NP_000287.4:p.His3728Leu
NM_001009944.3:c.11186A>T (PKD1) MANE Select NP_001009944.3:p.His3729Leu