Canonical Allele Identifier: CA394336134

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 440120
• ClinVar RCV Id: RCV000507238 ; RCV001552580 ; RCV003392341
• dbSNP Id: rs1555446330
• gnomAD v4: 16-2092491-C-T
• MyVariant Identifiers: chr16:g.2142492C>T (hg19) ; chr16:g.2092491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092491C>T , CM000678.2:g.2092491C>T	GRCh38
NC_000016.9:g.2142492C>T , CM000678.1:g.2142492C>T	GRCh37
NC_000016.8:g.2082493C>T	NCBI36
NG_008617.1:g.50730G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11258G>A (PKD1) MANE Select	ENSP00000262304.4:p.Arg3753Gln
ENST00000262304.8:c.11258G>A (PKD1)	ENSP00000262304.4:p.Arg3753Gln
ENST00000423118.5:c.11255G>A (PKD1)	ENSP00000399501.1:p.Arg3752Gln
ENST00000485120.1:n.107G>A (PKD1)
ENST00000487932.5:c.5820G>A (PKD1)	ENSP00000457132.1:n.5820G>A
ENST00000562425.1:c.371G>A (PKD1)
ENST00000567355.1:n.421G>A (PKD1)
NM_000296.3:c.11255G>A (PKD1)	NP_000287.3:p.Arg3752Gln
NM_001009944.2:c.11258G>A (PKD1)	NP_001009944.2:p.Arg3753Gln
XM_005255370.2:c.8213G>A (PKD1)	XP_005255427.1:p.Arg2738Gln
XM_011522525.1:c.11336G>A (PKD1)	XP_011520827.1:p.Arg3779Gln
XM_011522526.1:c.11333G>A (PKD1)	XP_011520828.1:p.Arg3778Gln
XM_011522527.1:c.11318G>A (PKD1)	XP_011520829.1:p.Arg3773Gln
XM_011522528.1:c.11312G>A (PKD1)	XP_011520830.1:p.Arg3771Gln
XM_011522529.1:c.11309G>A (PKD1)	XP_011520831.1:p.Arg3770Gln
XM_011522530.1:c.11282G>A (PKD1)	XP_011520832.1:p.Arg3761Gln
XM_011522531.1:c.11264G>A (PKD1)	XP_011520833.1:p.Arg3755Gln
XM_011522532.1:c.11210G>A (PKD1)	XP_011520834.1:p.Arg3737Gln
XM_011522533.1:c.11129G>A (PKD1)	XP_011520835.1:p.Arg3710Gln
XM_011522534.1:c.11072G>A (PKD1)	XP_011520836.1:p.Arg3691Gln
XM_011522535.1:c.9158G>A (PKD1)	XP_011520837.1:p.Arg3053Gln
XM_011522537.1:c.8336G>A (PKD1)	XP_011520839.1:p.Arg2779Gln
XR_932867.1:n.11351G>A (PKD1)
XR_932868.1:n.11110-303G>A (PKD1)
XR_932869.1:n.11110-303G>A (PKD1)
XR_932870.1:n.11211G>A (PKD1)
XR_933000.1:n.90-398C>T (PKD1-AS1)
XR_933001.1:n.180-398C>T (PKD1-AS1)
XR_933002.1:n.89-398C>T (PKD1-AS1)
XR_933003.1:n.89-398C>T (PKD1-AS1)
NR_135175.1:n.180-398C>T (PKD1-AS1)
XM_005255370.3:c.8213G>A (PKD1)	XP_005255427.1:p.Arg2738Gln
XM_011522528.3:c.11312G>A (PKD1)	XP_011520830.1:p.Arg3771Gln
XM_011522529.2:c.11309G>A (PKD1)	XP_011520831.1:p.Arg3770Gln
XM_011522537.2:c.8336G>A (PKD1)	XP_011520839.1:p.Arg2779Gln
XM_024450298.1:c.11378G>A (PKD1)	XP_024306066.1:p.Arg3793Gln
XM_024450299.1:c.11306G>A (PKD1)	XP_024306067.1:p.Arg3769Gln
XM_024450300.1:c.11168G>A (PKD1)	XP_024306068.1:p.Arg3723Gln
XM_024450301.1:c.9254G>A (PKD1)	XP_024306069.1:p.Arg3085Gln
NM_000296.4:c.11255G>A (PKD1)	NP_000287.4:p.Arg3752Gln
NM_001009944.3:c.11258G>A (PKD1) MANE Select	NP_001009944.3:p.Arg3753Gln