Canonical Allele Identifier: CA394332063

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091580A>G , CM000678.2:g.2091580A>G	GRCh38
NC_000016.9:g.2141581A>G , CM000678.1:g.2141581A>G	GRCh37
NC_000016.8:g.2081582A>G	NCBI36
NG_008617.1:g.51641T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.11555T>C (PKD1) MANE Select	NP_001009944.3:p.Leu3852Pro
ENST00000262304.9:c.11555T>C (PKD1) MANE Select	ENSP00000262304.4:p.Leu3852Pro
NM_000296.3:c.11552T>C (PKD1)	NP_000287.3:p.Leu3851Pro
NM_000296.4:c.11552T>C (PKD1)	NP_000287.4:p.Leu3851Pro
NM_001009944.2:c.11555T>C (PKD1)	NP_001009944.2:p.Leu3852Pro
NR_135175.1:n.145A>G (PKD1-AS1)
ENST00000262304.8:c.11555T>C (PKD1)	ENSP00000262304.4:p.Leu3852Pro
ENST00000423118.5:c.11552T>C (PKD1)	ENSP00000399501.1:p.Leu3851Pro
ENST00000485120.1:n.544T>C (PKD1)
ENST00000487932.5:c.6117T>C (PKD1)	ENSP00000457132.1:n.6117T>C
ENST00000561668.5:c.216T>C (PKD1)
ENST00000564313.1:n.233+201T>C (PKD1)
XM_005255370.2:c.8510T>C (PKD1)	XP_005255427.1:p.Leu2837Pro
XM_005255370.3:c.8510T>C (PKD1)	XP_005255427.1:p.Leu2837Pro
XM_011522525.1:c.11633T>C (PKD1)	XP_011520827.1:p.Leu3878Pro
XM_011522526.1:c.11630T>C (PKD1)	XP_011520828.1:p.Leu3877Pro
XM_011522527.1:c.11615T>C (PKD1)	XP_011520829.1:p.Leu3872Pro
XM_011522528.1:c.11609T>C (PKD1)	XP_011520830.1:p.Leu3870Pro
XM_011522528.3:c.11609T>C (PKD1)	XP_011520830.1:p.Leu3870Pro
XM_011522529.1:c.11606T>C (PKD1)	XP_011520831.1:p.Leu3869Pro
XM_011522529.2:c.11606T>C (PKD1)	XP_011520831.1:p.Leu3869Pro
XM_011522530.1:c.11579T>C (PKD1)	XP_011520832.1:p.Leu3860Pro
XM_011522531.1:c.11561T>C (PKD1)	XP_011520833.1:p.Leu3854Pro
XM_011522532.1:c.11507T>C (PKD1)	XP_011520834.1:p.Leu3836Pro
XM_011522533.1:c.11426T>C (PKD1)	XP_011520835.1:p.Leu3809Pro
XM_011522534.1:c.11369T>C (PKD1)	XP_011520836.1:p.Leu3790Pro
XM_011522535.1:c.9455T>C (PKD1)	XP_011520837.1:p.Leu3152Pro
XM_011522537.1:c.8633T>C (PKD1)	XP_011520839.1:p.Leu2878Pro
XM_011522537.2:c.8633T>C (PKD1)	XP_011520839.1:p.Leu2878Pro
XM_024450298.1:c.11675T>C (PKD1)	XP_024306066.1:p.Leu3892Pro
XM_024450299.1:c.11603T>C (PKD1)	XP_024306067.1:p.Leu3868Pro
XM_024450300.1:c.11465T>C (PKD1)	XP_024306068.1:p.Leu3822Pro
XM_024450301.1:c.9551T>C (PKD1)	XP_024306069.1:p.Leu3184Pro
XR_932867.1:n.11630+201T>C (PKD1)
XR_932868.1:n.11395T>C (PKD1)
XR_932869.1:n.11377+201T>C (PKD1)
XR_933000.1:n.55A>G (PKD1-AS1)
XR_933001.1:n.145A>G (PKD1-AS1)
XR_933002.1:n.60A>G (PKD1-AS1)
XR_933003.1:n.60A>G (PKD1-AS1)