Canonical Allele Identifier: CA394332588

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2141806T>G (hg19) ; chr16:g.2091805T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091805T>G , CM000678.2:g.2091805T>G	GRCh38
NC_000016.9:g.2141806T>G , CM000678.1:g.2141806T>G	GRCh37
NC_000016.8:g.2081807T>G	NCBI36
NG_008617.1:g.51416A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11513A>C (PKD1) MANE Select	ENSP00000262304.4:p.Gln3838Pro
ENST00000262304.8:c.11513A>C (PKD1)	ENSP00000262304.4:p.Gln3838Pro
ENST00000423118.5:c.11510A>C (PKD1)	ENSP00000399501.1:p.Gln3837Pro
ENST00000485120.1:n.502A>C (PKD1)
ENST00000487932.5:c.6075A>C (PKD1)	ENSP00000457132.1:n.6075A>C
ENST00000561668.5:c.174A>C (PKD1)
ENST00000564313.1:n.209A>C (PKD1)
NM_000296.3:c.11510A>C (PKD1)	NP_000287.3:p.Gln3837Pro
NM_001009944.2:c.11513A>C (PKD1)	NP_001009944.2:p.Gln3838Pro
XM_005255370.2:c.8468A>C (PKD1)	XP_005255427.1:p.Gln2823Pro
XM_011522525.1:c.11591A>C (PKD1)	XP_011520827.1:p.Gln3864Pro
XM_011522526.1:c.11588A>C (PKD1)	XP_011520828.1:p.Gln3863Pro
XM_011522527.1:c.11573A>C (PKD1)	XP_011520829.1:p.Gln3858Pro
XM_011522528.1:c.11567A>C (PKD1)	XP_011520830.1:p.Gln3856Pro
XM_011522529.1:c.11564A>C (PKD1)	XP_011520831.1:p.Gln3855Pro
XM_011522530.1:c.11537A>C (PKD1)	XP_011520832.1:p.Gln3846Pro
XM_011522531.1:c.11519A>C (PKD1)	XP_011520833.1:p.Gln3840Pro
XM_011522532.1:c.11465A>C (PKD1)	XP_011520834.1:p.Gln3822Pro
XM_011522533.1:c.11384A>C (PKD1)	XP_011520835.1:p.Gln3795Pro
XM_011522534.1:c.11327A>C (PKD1)	XP_011520836.1:p.Gln3776Pro
XM_011522535.1:c.9413A>C (PKD1)	XP_011520837.1:p.Gln3138Pro
XM_011522537.1:c.8591A>C (PKD1)	XP_011520839.1:p.Gln2864Pro
XR_932867.1:n.11606A>C (PKD1)
XR_932868.1:n.11353A>C (PKD1)
XR_932869.1:n.11353A>C (PKD1)
XR_933000.1:n.89+191T>G (PKD1-AS1)
XR_933001.1:n.179+191T>G (PKD1-AS1)
XR_933002.1:n.88+197T>G (PKD1-AS1)
XR_933003.1:n.88+197T>G (PKD1-AS1)
NR_135175.1:n.179+191T>G (PKD1-AS1)
XM_005255370.3:c.8468A>C (PKD1)	XP_005255427.1:p.Gln2823Pro
XM_011522528.3:c.11567A>C (PKD1)	XP_011520830.1:p.Gln3856Pro
XM_011522529.2:c.11564A>C (PKD1)	XP_011520831.1:p.Gln3855Pro
XM_011522537.2:c.8591A>C (PKD1)	XP_011520839.1:p.Gln2864Pro
XM_024450298.1:c.11633A>C (PKD1)	XP_024306066.1:p.Gln3878Pro
XM_024450299.1:c.11561A>C (PKD1)	XP_024306067.1:p.Gln3854Pro
XM_024450300.1:c.11423A>C (PKD1)	XP_024306068.1:p.Gln3808Pro
XM_024450301.1:c.9509A>C (PKD1)	XP_024306069.1:p.Gln3170Pro
NM_000296.4:c.11510A>C (PKD1)	NP_000287.4:p.Gln3837Pro
NM_001009944.3:c.11513A>C (PKD1) MANE Select	NP_001009944.3:p.Gln3838Pro