Canonical Allele Identifier: CA16609452

Gene: PKD1 PKD1-AS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092181G>C , CM000678.2:g.2092181G>C	GRCh38
NC_000016.9:g.2142182G>C , CM000678.1:g.2142182G>C	GRCh37
NC_000016.8:g.2082183G>C	NCBI36
NG_008617.1:g.51040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11277C>G (PKD1) MANE Select	ENSP00000262304.4:p.Tyr3759Ter
ENST00000262304.8:c.11277C>G (PKD1)	ENSP00000262304.4:p.Tyr3759Ter
ENST00000423118.5:c.11274C>G (PKD1)	ENSP00000399501.1:p.Tyr3758Ter
ENST00000485120.1:n.126C>G (PKD1)
ENST00000487932.5:c.5839C>G (PKD1)	ENSP00000457132.1:n.5839C>G
ENST00000562425.1:c.390C>G (PKD1)
ENST00000567355.1:n.440C>G (PKD1)
NM_000296.3:c.11274C>G (PKD1)	NP_000287.3:p.Tyr3758Ter
NM_001009944.2:c.11277C>G (PKD1)	NP_001009944.2:p.Tyr3759Ter
XM_005255370.2:c.8232C>G (PKD1)	XP_005255427.1:p.Tyr2744Ter
XM_011522525.1:c.11355C>G (PKD1)	XP_011520827.1:p.Tyr3785Ter
XM_011522526.1:c.11352C>G (PKD1)	XP_011520828.1:p.Tyr3784Ter
XM_011522527.1:c.11337C>G (PKD1)	XP_011520829.1:p.Tyr3779Ter
XM_011522528.1:c.11331C>G (PKD1)	XP_011520830.1:p.Tyr3777Ter
XM_011522529.1:c.11328C>G (PKD1)	XP_011520831.1:p.Tyr3776Ter
XM_011522530.1:c.11301C>G (PKD1)	XP_011520832.1:p.Tyr3767Ter
XM_011522531.1:c.11283C>G (PKD1)	XP_011520833.1:p.Tyr3761Ter
XM_011522532.1:c.11229C>G (PKD1)	XP_011520834.1:p.Tyr3743Ter
XM_011522533.1:c.11148C>G (PKD1)	XP_011520835.1:p.Tyr3716Ter
XM_011522534.1:c.11091C>G (PKD1)	XP_011520836.1:p.Tyr3697Ter
XM_011522535.1:c.9177C>G (PKD1)	XP_011520837.1:p.Tyr3059Ter
XM_011522537.1:c.8355C>G (PKD1)	XP_011520839.1:p.Tyr2785Ter
XR_932867.1:n.11370C>G (PKD1)
XR_932868.1:n.11117C>G (PKD1)
XR_932869.1:n.11117C>G (PKD1)
XR_932870.1:n.11230C>G (PKD1)
XR_933000.1:n.89+567G>C (PKD1-AS1)
XR_933001.1:n.179+567G>C (PKD1-AS1)
XR_933002.1:n.88+573G>C (PKD1-AS1)
XR_933003.1:n.88+573G>C (PKD1-AS1)
NR_135175.1:n.179+567G>C (PKD1-AS1)
XM_005255370.3:c.8232C>G (PKD1)	XP_005255427.1:p.Tyr2744Ter
XM_011522528.3:c.11331C>G (PKD1)	XP_011520830.1:p.Tyr3777Ter
XM_011522529.2:c.11328C>G (PKD1)	XP_011520831.1:p.Tyr3776Ter
XM_011522537.2:c.8355C>G (PKD1)	XP_011520839.1:p.Tyr2785Ter
XM_024450298.1:c.11397C>G (PKD1)	XP_024306066.1:p.Tyr3799Ter
XM_024450299.1:c.11325C>G (PKD1)	XP_024306067.1:p.Tyr3775Ter
XM_024450300.1:c.11187C>G (PKD1)	XP_024306068.1:p.Tyr3729Ter
XM_024450301.1:c.9273C>G (PKD1)	XP_024306069.1:p.Tyr3091Ter
NM_000296.4:c.11274C>G (PKD1)	NP_000287.4:p.Tyr3758Ter
NM_001009944.3:c.11277C>G (PKD1) MANE Select	NP_001009944.3:p.Tyr3759Ter