Canonical Allele Identifier: CA394336189

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 997225
• ClinVar RCV Id: RCV001292218
• dbSNP Id: rs2091642915
• gnomAD v4: 16-2092507-G-A
• MyVariant Identifiers: chr16:g.2142508G>A (hg19) ; chr16:g.2092507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092507G>A , CM000678.2:g.2092507G>A	GRCh38
NC_000016.9:g.2142508G>A , CM000678.1:g.2142508G>A	GRCh37
NC_000016.8:g.2082509G>A	NCBI36
NG_008617.1:g.50714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11242C>T (PKD1) MANE Select	ENSP00000262304.4:p.Arg3748Trp
ENST00000262304.8:c.11242C>T (PKD1)	ENSP00000262304.4:p.Arg3748Trp
ENST00000423118.5:c.11239C>T (PKD1)	ENSP00000399501.1:p.Arg3747Trp
ENST00000485120.1:n.91C>T (PKD1)
ENST00000487932.5:c.5804C>T (PKD1)	ENSP00000457132.1:n.5804C>T
ENST00000562425.1:c.355C>T (PKD1)
ENST00000567355.1:n.405C>T (PKD1)
NM_000296.3:c.11239C>T (PKD1)	NP_000287.3:p.Arg3747Trp
NM_001009944.2:c.11242C>T (PKD1)	NP_001009944.2:p.Arg3748Trp
XM_005255370.2:c.8197C>T (PKD1)	XP_005255427.1:p.Arg2733Trp
XM_011522525.1:c.11320C>T (PKD1)	XP_011520827.1:p.Arg3774Trp
XM_011522526.1:c.11317C>T (PKD1)	XP_011520828.1:p.Arg3773Trp
XM_011522527.1:c.11302C>T (PKD1)	XP_011520829.1:p.Arg3768Trp
XM_011522528.1:c.11296C>T (PKD1)	XP_011520830.1:p.Arg3766Trp
XM_011522529.1:c.11293C>T (PKD1)	XP_011520831.1:p.Arg3765Trp
XM_011522530.1:c.11266C>T (PKD1)	XP_011520832.1:p.Arg3756Trp
XM_011522531.1:c.11248C>T (PKD1)	XP_011520833.1:p.Arg3750Trp
XM_011522532.1:c.11194C>T (PKD1)	XP_011520834.1:p.Arg3732Trp
XM_011522533.1:c.11113C>T (PKD1)	XP_011520835.1:p.Arg3705Trp
XM_011522534.1:c.11056C>T (PKD1)	XP_011520836.1:p.Arg3686Trp
XM_011522535.1:c.9142C>T (PKD1)	XP_011520837.1:p.Arg3048Trp
XM_011522537.1:c.8320C>T (PKD1)	XP_011520839.1:p.Arg2774Trp
XR_932867.1:n.11335C>T (PKD1)
XR_932868.1:n.11110-319C>T (PKD1)
XR_932869.1:n.11110-319C>T (PKD1)
XR_932870.1:n.11195C>T (PKD1)
XR_933000.1:n.90-382G>A (PKD1-AS1)
XR_933001.1:n.180-382G>A (PKD1-AS1)
XR_933002.1:n.89-382G>A (PKD1-AS1)
XR_933003.1:n.89-382G>A (PKD1-AS1)
NR_135175.1:n.180-382G>A (PKD1-AS1)
XM_005255370.3:c.8197C>T (PKD1)	XP_005255427.1:p.Arg2733Trp
XM_011522528.3:c.11296C>T (PKD1)	XP_011520830.1:p.Arg3766Trp
XM_011522529.2:c.11293C>T (PKD1)	XP_011520831.1:p.Arg3765Trp
XM_011522537.2:c.8320C>T (PKD1)	XP_011520839.1:p.Arg2774Trp
XM_024450298.1:c.11362C>T (PKD1)	XP_024306066.1:p.Arg3788Trp
XM_024450299.1:c.11290C>T (PKD1)	XP_024306067.1:p.Arg3764Trp
XM_024450300.1:c.11152C>T (PKD1)	XP_024306068.1:p.Arg3718Trp
XM_024450301.1:c.9238C>T (PKD1)	XP_024306069.1:p.Arg3080Trp
NM_000296.4:c.11239C>T (PKD1)	NP_000287.4:p.Arg3747Trp
NM_001009944.3:c.11242C>T (PKD1) MANE Select	NP_001009944.3:p.Arg3748Trp