Canonical Allele Identifier: CA492962489

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1416902626
• gnomAD v2: 16-2142559-G-A
• MyVariant Identifiers: chr16:g.2142559G>A (hg19) ; chr16:g.2092558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092558G>A , CM000678.2:g.2092558G>A	GRCh38
NC_000016.9:g.2142559G>A , CM000678.1:g.2142559G>A	GRCh37
NC_000016.8:g.2082560G>A	NCBI36
NG_008617.1:g.50663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11191C>T (PKD1) MANE Select	ENSP00000262304.4:p.Leu3731=
ENST00000262304.8:c.11191C>T (PKD1)	ENSP00000262304.4:p.Leu3731=
ENST00000423118.5:c.11188C>T (PKD1)	ENSP00000399501.1:p.Leu3730=
ENST00000485120.1:n.40C>T (PKD1)
ENST00000487932.5:c.5753C>T (PKD1)	ENSP00000457132.1:n.5753C>T
ENST00000562425.1:c.304C>T (PKD1)
ENST00000567355.1:n.354C>T (PKD1)
NM_000296.3:c.11188C>T (PKD1)	NP_000287.3:p.Leu3730=
NM_001009944.2:c.11191C>T (PKD1)	NP_001009944.2:p.Leu3731=
XM_005255370.2:c.8146C>T (PKD1)	XP_005255427.1:p.Leu2716=
XM_011522525.1:c.11269C>T (PKD1)	XP_011520827.1:p.Leu3757=
XM_011522526.1:c.11266C>T (PKD1)	XP_011520828.1:p.Leu3756=
XM_011522527.1:c.11251C>T (PKD1)	XP_011520829.1:p.Leu3751=
XM_011522528.1:c.11245C>T (PKD1)	XP_011520830.1:p.Leu3749=
XM_011522529.1:c.11242C>T (PKD1)	XP_011520831.1:p.Leu3748=
XM_011522530.1:c.11215C>T (PKD1)	XP_011520832.1:p.Leu3739=
XM_011522531.1:c.11197C>T (PKD1)	XP_011520833.1:p.Leu3733=
XM_011522532.1:c.11143C>T (PKD1)	XP_011520834.1:p.Leu3715=
XM_011522533.1:c.11062C>T (PKD1)	XP_011520835.1:p.Leu3688=
XM_011522534.1:c.11005C>T (PKD1)	XP_011520836.1:p.Leu3669=
XM_011522535.1:c.9091C>T (PKD1)	XP_011520837.1:p.Leu3031=
XM_011522537.1:c.8269C>T (PKD1)	XP_011520839.1:p.Leu2757=
XR_932867.1:n.11284C>T (PKD1)
XR_932868.1:n.11110-370C>T (PKD1)
XR_932869.1:n.11110-370C>T (PKD1)
XR_932870.1:n.11144C>T (PKD1)
XR_933000.1:n.90-331G>A (PKD1-AS1)
XR_933001.1:n.180-331G>A (PKD1-AS1)
XR_933002.1:n.89-331G>A (PKD1-AS1)
XR_933003.1:n.89-331G>A (PKD1-AS1)
NR_135175.1:n.180-331G>A (PKD1-AS1)
XM_005255370.3:c.8146C>T (PKD1)	XP_005255427.1:p.Leu2716=
XM_011522528.3:c.11245C>T (PKD1)	XP_011520830.1:p.Leu3749=
XM_011522529.2:c.11242C>T (PKD1)	XP_011520831.1:p.Leu3748=
XM_011522537.2:c.8269C>T (PKD1)	XP_011520839.1:p.Leu2757=
XM_024450298.1:c.11311C>T (PKD1)	XP_024306066.1:p.Leu3771=
XM_024450299.1:c.11239C>T (PKD1)	XP_024306067.1:p.Leu3747=
XM_024450300.1:c.11101C>T (PKD1)	XP_024306068.1:p.Leu3701=
XM_024450301.1:c.9187C>T (PKD1)	XP_024306069.1:p.Leu3063=
NM_000296.4:c.11188C>T (PKD1)	NP_000287.4:p.Leu3730=
NM_001009944.3:c.11191C>T (PKD1) MANE Select	NP_001009944.3:p.Leu3731=