Canonical Allele Identifier: CA492962433
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2142503C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092502C>A , CM000678.2:g.2092502C>A GRCh38
NC_000016.9:g.2142503C>A , CM000678.1:g.2142503C>A GRCh37
NC_000016.8:g.2082504C>A NCBI36
NG_008617.1:g.50719G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11247G>T (PKD1) MANE Select ENSP00000262304.4:p.Leu3749=
ENST00000262304.8:c.11247G>T (PKD1) ENSP00000262304.4:p.Leu3749=
ENST00000423118.5:c.11244G>T (PKD1) ENSP00000399501.1:p.Leu3748=
ENST00000485120.1:n.96G>T (PKD1)
ENST00000487932.5:c.5809G>T (PKD1) ENSP00000457132.1:n.5809G>T
ENST00000562425.1:c.360G>T (PKD1)
ENST00000567355.1:n.410G>T (PKD1)
NM_000296.3:c.11244G>T (PKD1) NP_000287.3:p.Leu3748=
NM_001009944.2:c.11247G>T (PKD1) NP_001009944.2:p.Leu3749=
XM_005255370.2:c.8202G>T (PKD1) XP_005255427.1:p.Leu2734=
XM_011522525.1:c.11325G>T (PKD1) XP_011520827.1:p.Leu3775=
XM_011522526.1:c.11322G>T (PKD1) XP_011520828.1:p.Leu3774=
XM_011522527.1:c.11307G>T (PKD1) XP_011520829.1:p.Leu3769=
XM_011522528.1:c.11301G>T (PKD1) XP_011520830.1:p.Leu3767=
XM_011522529.1:c.11298G>T (PKD1) XP_011520831.1:p.Leu3766=
XM_011522530.1:c.11271G>T (PKD1) XP_011520832.1:p.Leu3757=
XM_011522531.1:c.11253G>T (PKD1) XP_011520833.1:p.Leu3751=
XM_011522532.1:c.11199G>T (PKD1) XP_011520834.1:p.Leu3733=
XM_011522533.1:c.11118G>T (PKD1) XP_011520835.1:p.Leu3706=
XM_011522534.1:c.11061G>T (PKD1) XP_011520836.1:p.Leu3687=
XM_011522535.1:c.9147G>T (PKD1) XP_011520837.1:p.Leu3049=
XM_011522537.1:c.8325G>T (PKD1) XP_011520839.1:p.Leu2775=
XR_932867.1:n.11340G>T (PKD1)
XR_932868.1:n.11110-314G>T (PKD1)
XR_932869.1:n.11110-314G>T (PKD1)
XR_932870.1:n.11200G>T (PKD1)
XR_933000.1:n.90-387C>A (PKD1-AS1)
XR_933001.1:n.180-387C>A (PKD1-AS1)
XR_933002.1:n.89-387C>A (PKD1-AS1)
XR_933003.1:n.89-387C>A (PKD1-AS1)
NR_135175.1:n.180-387C>A (PKD1-AS1)
XM_005255370.3:c.8202G>T (PKD1) XP_005255427.1:p.Leu2734=
XM_011522528.3:c.11301G>T (PKD1) XP_011520830.1:p.Leu3767=
XM_011522529.2:c.11298G>T (PKD1) XP_011520831.1:p.Leu3766=
XM_011522537.2:c.8325G>T (PKD1) XP_011520839.1:p.Leu2775=
XM_024450298.1:c.11367G>T (PKD1) XP_024306066.1:p.Leu3789=
XM_024450299.1:c.11295G>T (PKD1) XP_024306067.1:p.Leu3765=
XM_024450300.1:c.11157G>T (PKD1) XP_024306068.1:p.Leu3719=
XM_024450301.1:c.9243G>T (PKD1) XP_024306069.1:p.Leu3081=
NM_000296.4:c.11244G>T (PKD1) NP_000287.4:p.Leu3748=
NM_001009944.3:c.11247G>T (PKD1) MANE Select NP_001009944.3:p.Leu3749=