Canonical Allele Identifier: CA493044795

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1020513361
• MyVariant Identifiers: chr16:g.2141802C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091801C>G , CM000678.2:g.2091801C>G	GRCh38
NC_000016.9:g.2141802C>G , CM000678.1:g.2141802C>G	GRCh37
NC_000016.8:g.2081803C>G	NCBI36
NG_008617.1:g.51420G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11517G>C (PKD1) MANE Select	ENSP00000262304.4:p.Leu3839=
ENST00000262304.8:c.11517G>C (PKD1)	ENSP00000262304.4:p.Leu3839=
ENST00000423118.5:c.11514G>C (PKD1)	ENSP00000399501.1:p.Leu3838=
ENST00000485120.1:n.506G>C (PKD1)
ENST00000487932.5:c.6079G>C (PKD1)	ENSP00000457132.1:n.6079G>C
ENST00000561668.5:c.178G>C (PKD1)
ENST00000564313.1:n.213G>C (PKD1)
NM_000296.3:c.11514G>C (PKD1)	NP_000287.3:p.Leu3838=
NM_001009944.2:c.11517G>C (PKD1)	NP_001009944.2:p.Leu3839=
XM_005255370.2:c.8472G>C (PKD1)	XP_005255427.1:p.Leu2824=
XM_011522525.1:c.11595G>C (PKD1)	XP_011520827.1:p.Leu3865=
XM_011522526.1:c.11592G>C (PKD1)	XP_011520828.1:p.Leu3864=
XM_011522527.1:c.11577G>C (PKD1)	XP_011520829.1:p.Leu3859=
XM_011522528.1:c.11571G>C (PKD1)	XP_011520830.1:p.Leu3857=
XM_011522529.1:c.11568G>C (PKD1)	XP_011520831.1:p.Leu3856=
XM_011522530.1:c.11541G>C (PKD1)	XP_011520832.1:p.Leu3847=
XM_011522531.1:c.11523G>C (PKD1)	XP_011520833.1:p.Leu3841=
XM_011522532.1:c.11469G>C (PKD1)	XP_011520834.1:p.Leu3823=
XM_011522533.1:c.11388G>C (PKD1)	XP_011520835.1:p.Leu3796=
XM_011522534.1:c.11331G>C (PKD1)	XP_011520836.1:p.Leu3777=
XM_011522535.1:c.9417G>C (PKD1)	XP_011520837.1:p.Leu3139=
XM_011522537.1:c.8595G>C (PKD1)	XP_011520839.1:p.Leu2865=
XR_932867.1:n.11610G>C (PKD1)
XR_932868.1:n.11357G>C (PKD1)
XR_932869.1:n.11357G>C (PKD1)
XR_933000.1:n.89+187C>G (PKD1-AS1)
XR_933001.1:n.179+187C>G (PKD1-AS1)
XR_933002.1:n.88+193C>G (PKD1-AS1)
XR_933003.1:n.88+193C>G (PKD1-AS1)
NR_135175.1:n.179+187C>G (PKD1-AS1)
XM_005255370.3:c.8472G>C (PKD1)	XP_005255427.1:p.Leu2824=
XM_011522528.3:c.11571G>C (PKD1)	XP_011520830.1:p.Leu3857=
XM_011522529.2:c.11568G>C (PKD1)	XP_011520831.1:p.Leu3856=
XM_011522537.2:c.8595G>C (PKD1)	XP_011520839.1:p.Leu2865=
XM_024450298.1:c.11637G>C (PKD1)	XP_024306066.1:p.Leu3879=
XM_024450299.1:c.11565G>C (PKD1)	XP_024306067.1:p.Leu3855=
XM_024450300.1:c.11427G>C (PKD1)	XP_024306068.1:p.Leu3809=
XM_024450301.1:c.9513G>C (PKD1)	XP_024306069.1:p.Leu3171=
NM_000296.4:c.11514G>C (PKD1)	NP_000287.4:p.Leu3838=
NM_001009944.3:c.11517G>C (PKD1) MANE Select	NP_001009944.3:p.Leu3839=