Canonical Allele Identifier: CA394336447

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 1341617
• ClinVar RCV Id: RCV001837113
• dbSNP Id: rs2091645594
• MyVariant Identifiers: chr16:g.2142572C>G (hg19) ; chr16:g.2092571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092571C>G , CM000678.2:g.2092571C>G	GRCh38
NC_000016.9:g.2142572C>G , CM000678.1:g.2142572C>G	GRCh37
NC_000016.8:g.2082573C>G	NCBI36
NG_008617.1:g.50650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11178G>C (PKD1) MANE Select	ENSP00000262304.4:p.Trp3726Cys
ENST00000262304.8:c.11178G>C (PKD1)	ENSP00000262304.4:p.Trp3726Cys
ENST00000423118.5:c.11175G>C (PKD1)	ENSP00000399501.1:p.Trp3725Cys
ENST00000485120.1:n.27G>C (PKD1)
ENST00000487932.5:c.5740G>C (PKD1)	ENSP00000457132.1:n.5740G>C
ENST00000562425.1:c.291G>C (PKD1)
ENST00000567355.1:n.341G>C (PKD1)
NM_000296.3:c.11175G>C (PKD1)	NP_000287.3:p.Trp3725Cys
NM_001009944.2:c.11178G>C (PKD1)	NP_001009944.2:p.Trp3726Cys
XM_005255370.2:c.8133G>C (PKD1)	XP_005255427.1:p.Trp2711Cys
XM_011522525.1:c.11256G>C (PKD1)	XP_011520827.1:p.Trp3752Cys
XM_011522526.1:c.11253G>C (PKD1)	XP_011520828.1:p.Trp3751Cys
XM_011522527.1:c.11238G>C (PKD1)	XP_011520829.1:p.Trp3746Cys
XM_011522528.1:c.11232G>C (PKD1)	XP_011520830.1:p.Trp3744Cys
XM_011522529.1:c.11229G>C (PKD1)	XP_011520831.1:p.Trp3743Cys
XM_011522530.1:c.11202G>C (PKD1)	XP_011520832.1:p.Trp3734Cys
XM_011522531.1:c.11184G>C (PKD1)	XP_011520833.1:p.Trp3728Cys
XM_011522532.1:c.11130G>C (PKD1)	XP_011520834.1:p.Trp3710Cys
XM_011522533.1:c.11049G>C (PKD1)	XP_011520835.1:p.Trp3683Cys
XM_011522534.1:c.10992G>C (PKD1)	XP_011520836.1:p.Trp3664Cys
XM_011522535.1:c.9078G>C (PKD1)	XP_011520837.1:p.Trp3026Cys
XM_011522537.1:c.8256G>C (PKD1)	XP_011520839.1:p.Trp2752Cys
XR_932867.1:n.11271G>C (PKD1)
XR_932868.1:n.11110-383G>C (PKD1)
XR_932869.1:n.11110-383G>C (PKD1)
XR_932870.1:n.11131G>C (PKD1)
XR_933000.1:n.90-318C>G (PKD1-AS1)
XR_933001.1:n.180-318C>G (PKD1-AS1)
XR_933002.1:n.89-318C>G (PKD1-AS1)
XR_933003.1:n.89-318C>G (PKD1-AS1)
NR_135175.1:n.180-318C>G (PKD1-AS1)
XM_005255370.3:c.8133G>C (PKD1)	XP_005255427.1:p.Trp2711Cys
XM_011522528.3:c.11232G>C (PKD1)	XP_011520830.1:p.Trp3744Cys
XM_011522529.2:c.11229G>C (PKD1)	XP_011520831.1:p.Trp3743Cys
XM_011522537.2:c.8256G>C (PKD1)	XP_011520839.1:p.Trp2752Cys
XM_024450298.1:c.11298G>C (PKD1)	XP_024306066.1:p.Trp3766Cys
XM_024450299.1:c.11226G>C (PKD1)	XP_024306067.1:p.Trp3742Cys
XM_024450300.1:c.11088G>C (PKD1)	XP_024306068.1:p.Trp3696Cys
XM_024450301.1:c.9174G>C (PKD1)	XP_024306069.1:p.Trp3058Cys
NM_000296.4:c.11175G>C (PKD1)	NP_000287.4:p.Trp3725Cys
NM_001009944.3:c.11178G>C (PKD1) MANE Select	NP_001009944.3:p.Trp3726Cys