Canonical Allele Identifier: CA394336164

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 811094
• ClinVar RCV Id: RCV001000719
• dbSNP Id: rs1327414405
• MyVariant Identifiers: chr16:g.2142501C>G (hg19) ; chr16:g.2092500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092500C>G , CM000678.2:g.2092500C>G	GRCh38
NC_000016.9:g.2142501C>G , CM000678.1:g.2142501C>G	GRCh37
NC_000016.8:g.2082502C>G	NCBI36
NG_008617.1:g.50721G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11249G>C (PKD1) MANE Select	ENSP00000262304.4:p.Arg3750Pro
ENST00000262304.8:c.11249G>C (PKD1)	ENSP00000262304.4:p.Arg3750Pro
ENST00000423118.5:c.11246G>C (PKD1)	ENSP00000399501.1:p.Arg3749Pro
ENST00000485120.1:n.98G>C (PKD1)
ENST00000487932.5:c.5811G>C (PKD1)	ENSP00000457132.1:n.5811G>C
ENST00000562425.1:c.362G>C (PKD1)
ENST00000567355.1:n.412G>C (PKD1)
NM_000296.3:c.11246G>C (PKD1)	NP_000287.3:p.Arg3749Pro
NM_001009944.2:c.11249G>C (PKD1)	NP_001009944.2:p.Arg3750Pro
XM_005255370.2:c.8204G>C (PKD1)	XP_005255427.1:p.Arg2735Pro
XM_011522525.1:c.11327G>C (PKD1)	XP_011520827.1:p.Arg3776Pro
XM_011522526.1:c.11324G>C (PKD1)	XP_011520828.1:p.Arg3775Pro
XM_011522527.1:c.11309G>C (PKD1)	XP_011520829.1:p.Arg3770Pro
XM_011522528.1:c.11303G>C (PKD1)	XP_011520830.1:p.Arg3768Pro
XM_011522529.1:c.11300G>C (PKD1)	XP_011520831.1:p.Arg3767Pro
XM_011522530.1:c.11273G>C (PKD1)	XP_011520832.1:p.Arg3758Pro
XM_011522531.1:c.11255G>C (PKD1)	XP_011520833.1:p.Arg3752Pro
XM_011522532.1:c.11201G>C (PKD1)	XP_011520834.1:p.Arg3734Pro
XM_011522533.1:c.11120G>C (PKD1)	XP_011520835.1:p.Arg3707Pro
XM_011522534.1:c.11063G>C (PKD1)	XP_011520836.1:p.Arg3688Pro
XM_011522535.1:c.9149G>C (PKD1)	XP_011520837.1:p.Arg3050Pro
XM_011522537.1:c.8327G>C (PKD1)	XP_011520839.1:p.Arg2776Pro
XR_932867.1:n.11342G>C (PKD1)
XR_932868.1:n.11110-312G>C (PKD1)
XR_932869.1:n.11110-312G>C (PKD1)
XR_932870.1:n.11202G>C (PKD1)
XR_933000.1:n.90-389C>G (PKD1-AS1)
XR_933001.1:n.180-389C>G (PKD1-AS1)
XR_933002.1:n.89-389C>G (PKD1-AS1)
XR_933003.1:n.89-389C>G (PKD1-AS1)
NR_135175.1:n.180-389C>G (PKD1-AS1)
XM_005255370.3:c.8204G>C (PKD1)	XP_005255427.1:p.Arg2735Pro
XM_011522528.3:c.11303G>C (PKD1)	XP_011520830.1:p.Arg3768Pro
XM_011522529.2:c.11300G>C (PKD1)	XP_011520831.1:p.Arg3767Pro
XM_011522537.2:c.8327G>C (PKD1)	XP_011520839.1:p.Arg2776Pro
XM_024450298.1:c.11369G>C (PKD1)	XP_024306066.1:p.Arg3790Pro
XM_024450299.1:c.11297G>C (PKD1)	XP_024306067.1:p.Arg3766Pro
XM_024450300.1:c.11159G>C (PKD1)	XP_024306068.1:p.Arg3720Pro
XM_024450301.1:c.9245G>C (PKD1)	XP_024306069.1:p.Arg3082Pro
NM_000296.4:c.11246G>C (PKD1)	NP_000287.4:p.Arg3749Pro
NM_001009944.3:c.11249G>C (PKD1) MANE Select	NP_001009944.3:p.Arg3750Pro