Canonical Allele Identifier: CA394336138

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 1803270
• ClinVar RCV Id: RCV002466940 ; RCV003984264
• MyVariant Identifiers: chr16:g.2142493G>C (hg19) ; chr16:g.2092492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092492G>C , CM000678.2:g.2092492G>C	GRCh38
NC_000016.9:g.2142493G>C , CM000678.1:g.2142493G>C	GRCh37
NC_000016.8:g.2082494G>C	NCBI36
NG_008617.1:g.50729C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11257C>G (PKD1) MANE Select	ENSP00000262304.4:p.Arg3753Gly
ENST00000262304.8:c.11257C>G (PKD1)	ENSP00000262304.4:p.Arg3753Gly
ENST00000423118.5:c.11254C>G (PKD1)	ENSP00000399501.1:p.Arg3752Gly
ENST00000485120.1:n.106C>G (PKD1)
ENST00000487932.5:c.5819C>G (PKD1)	ENSP00000457132.1:n.5819C>G
ENST00000562425.1:c.370C>G (PKD1)
ENST00000567355.1:n.420C>G (PKD1)
NM_000296.3:c.11254C>G (PKD1)	NP_000287.3:p.Arg3752Gly
NM_001009944.2:c.11257C>G (PKD1)	NP_001009944.2:p.Arg3753Gly
XM_005255370.2:c.8212C>G (PKD1)	XP_005255427.1:p.Arg2738Gly
XM_011522525.1:c.11335C>G (PKD1)	XP_011520827.1:p.Arg3779Gly
XM_011522526.1:c.11332C>G (PKD1)	XP_011520828.1:p.Arg3778Gly
XM_011522527.1:c.11317C>G (PKD1)	XP_011520829.1:p.Arg3773Gly
XM_011522528.1:c.11311C>G (PKD1)	XP_011520830.1:p.Arg3771Gly
XM_011522529.1:c.11308C>G (PKD1)	XP_011520831.1:p.Arg3770Gly
XM_011522530.1:c.11281C>G (PKD1)	XP_011520832.1:p.Arg3761Gly
XM_011522531.1:c.11263C>G (PKD1)	XP_011520833.1:p.Arg3755Gly
XM_011522532.1:c.11209C>G (PKD1)	XP_011520834.1:p.Arg3737Gly
XM_011522533.1:c.11128C>G (PKD1)	XP_011520835.1:p.Arg3710Gly
XM_011522534.1:c.11071C>G (PKD1)	XP_011520836.1:p.Arg3691Gly
XM_011522535.1:c.9157C>G (PKD1)	XP_011520837.1:p.Arg3053Gly
XM_011522537.1:c.8335C>G (PKD1)	XP_011520839.1:p.Arg2779Gly
XR_932867.1:n.11350C>G (PKD1)
XR_932868.1:n.11110-304C>G (PKD1)
XR_932869.1:n.11110-304C>G (PKD1)
XR_932870.1:n.11210C>G (PKD1)
XR_933000.1:n.90-397G>C (PKD1-AS1)
XR_933001.1:n.180-397G>C (PKD1-AS1)
XR_933002.1:n.89-397G>C (PKD1-AS1)
XR_933003.1:n.89-397G>C (PKD1-AS1)
NR_135175.1:n.180-397G>C (PKD1-AS1)
XM_005255370.3:c.8212C>G (PKD1)	XP_005255427.1:p.Arg2738Gly
XM_011522528.3:c.11311C>G (PKD1)	XP_011520830.1:p.Arg3771Gly
XM_011522529.2:c.11308C>G (PKD1)	XP_011520831.1:p.Arg3770Gly
XM_011522537.2:c.8335C>G (PKD1)	XP_011520839.1:p.Arg2779Gly
XM_024450298.1:c.11377C>G (PKD1)	XP_024306066.1:p.Arg3793Gly
XM_024450299.1:c.11305C>G (PKD1)	XP_024306067.1:p.Arg3769Gly
XM_024450300.1:c.11167C>G (PKD1)	XP_024306068.1:p.Arg3723Gly
XM_024450301.1:c.9253C>G (PKD1)	XP_024306069.1:p.Arg3085Gly
NM_000296.4:c.11254C>G (PKD1)	NP_000287.4:p.Arg3752Gly
NM_001009944.3:c.11257C>G (PKD1) MANE Select	NP_001009944.3:p.Arg3753Gly