Canonical Allele Identifier: CA394332405

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091788C>G , CM000678.2:g.2091788C>G	GRCh38
NC_000016.9:g.2141789C>G , CM000678.1:g.2141789C>G	GRCh37
NC_000016.8:g.2081790C>G	NCBI36
NG_008617.1:g.51433G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.11530G>C (PKD1) MANE Select	NP_001009944.3:p.Asp3844His
ENST00000262304.9:c.11530G>C (PKD1) MANE Select	ENSP00000262304.4:p.Asp3844His
NM_000296.3:c.11527G>C (PKD1)	NP_000287.3:p.Asp3843His
NM_000296.4:c.11527G>C (PKD1)	NP_000287.4:p.Asp3843His
NM_001009944.2:c.11530G>C (PKD1)	NP_001009944.2:p.Asp3844His
NR_135175.1:n.179+174C>G (PKD1-AS1)
ENST00000262304.8:c.11530G>C (PKD1)	ENSP00000262304.4:p.Asp3844His
ENST00000423118.5:c.11527G>C (PKD1)	ENSP00000399501.1:p.Asp3843His
ENST00000485120.1:n.519G>C (PKD1)
ENST00000487932.5:c.6092G>C (PKD1)	ENSP00000457132.1:n.6092G>C
ENST00000561668.5:c.191G>C (PKD1)
ENST00000564313.1:n.226G>C (PKD1)
XM_005255370.2:c.8485G>C (PKD1)	XP_005255427.1:p.Asp2829His
XM_005255370.3:c.8485G>C (PKD1)	XP_005255427.1:p.Asp2829His
XM_011522525.1:c.11608G>C (PKD1)	XP_011520827.1:p.Asp3870His
XM_011522526.1:c.11605G>C (PKD1)	XP_011520828.1:p.Asp3869His
XM_011522527.1:c.11590G>C (PKD1)	XP_011520829.1:p.Asp3864His
XM_011522528.1:c.11584G>C (PKD1)	XP_011520830.1:p.Asp3862His
XM_011522528.3:c.11584G>C (PKD1)	XP_011520830.1:p.Asp3862His
XM_011522529.1:c.11581G>C (PKD1)	XP_011520831.1:p.Asp3861His
XM_011522529.2:c.11581G>C (PKD1)	XP_011520831.1:p.Asp3861His
XM_011522530.1:c.11554G>C (PKD1)	XP_011520832.1:p.Asp3852His
XM_011522531.1:c.11536G>C (PKD1)	XP_011520833.1:p.Asp3846His
XM_011522532.1:c.11482G>C (PKD1)	XP_011520834.1:p.Asp3828His
XM_011522533.1:c.11401G>C (PKD1)	XP_011520835.1:p.Asp3801His
XM_011522534.1:c.11344G>C (PKD1)	XP_011520836.1:p.Asp3782His
XM_011522535.1:c.9430G>C (PKD1)	XP_011520837.1:p.Asp3144His
XM_011522537.1:c.8608G>C (PKD1)	XP_011520839.1:p.Asp2870His
XM_011522537.2:c.8608G>C (PKD1)	XP_011520839.1:p.Asp2870His
XM_024450298.1:c.11650G>C (PKD1)	XP_024306066.1:p.Asp3884His
XM_024450299.1:c.11578G>C (PKD1)	XP_024306067.1:p.Asp3860His
XM_024450300.1:c.11440G>C (PKD1)	XP_024306068.1:p.Asp3814His
XM_024450301.1:c.9526G>C (PKD1)	XP_024306069.1:p.Asp3176His
XR_932867.1:n.11623G>C (PKD1)
XR_932868.1:n.11370G>C (PKD1)
XR_932869.1:n.11370G>C (PKD1)
XR_933000.1:n.89+174C>G (PKD1-AS1)
XR_933001.1:n.179+174C>G (PKD1-AS1)
XR_933002.1:n.88+180C>G (PKD1-AS1)
XR_933003.1:n.88+180C>G (PKD1-AS1)