Canonical Allele Identifier: CA394336466

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 447949
• ClinVar RCV Id: RCV000518508 ; RCV002490886
• dbSNP Id: rs1555446411
• MyVariant Identifiers: chr16:g.2142574A>G (hg19) ; chr16:g.2092573A>G (hg38)
• PubMed: PMID:18640754

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092573A>G , CM000678.2:g.2092573A>G	GRCh38
NC_000016.9:g.2142574A>G , CM000678.1:g.2142574A>G	GRCh37
NC_000016.8:g.2082575A>G	NCBI36
NG_008617.1:g.50648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11176T>C (PKD1) MANE Select	ENSP00000262304.4:p.Trp3726Arg
ENST00000262304.8:c.11176T>C (PKD1)	ENSP00000262304.4:p.Trp3726Arg
ENST00000423118.5:c.11173T>C (PKD1)	ENSP00000399501.1:p.Trp3725Arg
ENST00000485120.1:n.25T>C (PKD1)
ENST00000487932.5:c.5738T>C (PKD1)	ENSP00000457132.1:n.5738T>C
ENST00000562425.1:c.289T>C (PKD1)
ENST00000567355.1:n.339T>C (PKD1)
NM_000296.3:c.11173T>C (PKD1)	NP_000287.3:p.Trp3725Arg
NM_001009944.2:c.11176T>C (PKD1)	NP_001009944.2:p.Trp3726Arg
XM_005255370.2:c.8131T>C (PKD1)	XP_005255427.1:p.Trp2711Arg
XM_011522525.1:c.11254T>C (PKD1)	XP_011520827.1:p.Trp3752Arg
XM_011522526.1:c.11251T>C (PKD1)	XP_011520828.1:p.Trp3751Arg
XM_011522527.1:c.11236T>C (PKD1)	XP_011520829.1:p.Trp3746Arg
XM_011522528.1:c.11230T>C (PKD1)	XP_011520830.1:p.Trp3744Arg
XM_011522529.1:c.11227T>C (PKD1)	XP_011520831.1:p.Trp3743Arg
XM_011522530.1:c.11200T>C (PKD1)	XP_011520832.1:p.Trp3734Arg
XM_011522531.1:c.11182T>C (PKD1)	XP_011520833.1:p.Trp3728Arg
XM_011522532.1:c.11128T>C (PKD1)	XP_011520834.1:p.Trp3710Arg
XM_011522533.1:c.11047T>C (PKD1)	XP_011520835.1:p.Trp3683Arg
XM_011522534.1:c.10990T>C (PKD1)	XP_011520836.1:p.Trp3664Arg
XM_011522535.1:c.9076T>C (PKD1)	XP_011520837.1:p.Trp3026Arg
XM_011522537.1:c.8254T>C (PKD1)	XP_011520839.1:p.Trp2752Arg
XR_932867.1:n.11269T>C (PKD1)
XR_932868.1:n.11110-385T>C (PKD1)
XR_932869.1:n.11110-385T>C (PKD1)
XR_932870.1:n.11129T>C (PKD1)
XR_933000.1:n.90-316A>G (PKD1-AS1)
XR_933001.1:n.180-316A>G (PKD1-AS1)
XR_933002.1:n.89-316A>G (PKD1-AS1)
XR_933003.1:n.89-316A>G (PKD1-AS1)
NR_135175.1:n.180-316A>G (PKD1-AS1)
XM_005255370.3:c.8131T>C (PKD1)	XP_005255427.1:p.Trp2711Arg
XM_011522528.3:c.11230T>C (PKD1)	XP_011520830.1:p.Trp3744Arg
XM_011522529.2:c.11227T>C (PKD1)	XP_011520831.1:p.Trp3743Arg
XM_011522537.2:c.8254T>C (PKD1)	XP_011520839.1:p.Trp2752Arg
XM_024450298.1:c.11296T>C (PKD1)	XP_024306066.1:p.Trp3766Arg
XM_024450299.1:c.11224T>C (PKD1)	XP_024306067.1:p.Trp3742Arg
XM_024450300.1:c.11086T>C (PKD1)	XP_024306068.1:p.Trp3696Arg
XM_024450301.1:c.9172T>C (PKD1)	XP_024306069.1:p.Trp3058Arg
NM_000296.4:c.11173T>C (PKD1)	NP_000287.4:p.Trp3725Arg
NM_001009944.3:c.11176T>C (PKD1) MANE Select	NP_001009944.3:p.Trp3726Arg