Canonical Allele Identifier: CA492962507

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142593C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092592C>G , CM000678.2:g.2092592C>G	GRCh38
NC_000016.9:g.2142593C>G , CM000678.1:g.2142593C>G	GRCh37
NC_000016.8:g.2082594C>G	NCBI36
NG_008617.1:g.50629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11157G>C (PKD1) MANE Select	ENSP00000262304.4:p.Arg3719=
ENST00000262304.8:c.11157G>C (PKD1)	ENSP00000262304.4:p.Arg3719=
ENST00000423118.5:c.11154G>C (PKD1)	ENSP00000399501.1:p.Arg3718=
ENST00000485120.1:n.6G>C (PKD1)
ENST00000487932.5:c.5719G>C (PKD1)	ENSP00000457132.1:n.5719G>C
ENST00000562425.1:c.270G>C (PKD1)
ENST00000567355.1:n.320G>C (PKD1)
NM_000296.3:c.11154G>C (PKD1)	NP_000287.3:p.Arg3718=
NM_001009944.2:c.11157G>C (PKD1)	NP_001009944.2:p.Arg3719=
XM_005255370.2:c.8112G>C (PKD1)	XP_005255427.1:p.Arg2704=
XM_011522525.1:c.11235G>C (PKD1)	XP_011520827.1:p.Arg3745=
XM_011522526.1:c.11232G>C (PKD1)	XP_011520828.1:p.Arg3744=
XM_011522527.1:c.11217G>C (PKD1)	XP_011520829.1:p.Arg3739=
XM_011522528.1:c.11211G>C (PKD1)	XP_011520830.1:p.Arg3737=
XM_011522529.1:c.11208G>C (PKD1)	XP_011520831.1:p.Arg3736=
XM_011522530.1:c.11181G>C (PKD1)	XP_011520832.1:p.Arg3727=
XM_011522531.1:c.11163G>C (PKD1)	XP_011520833.1:p.Arg3721=
XM_011522532.1:c.11109G>C (PKD1)	XP_011520834.1:p.Arg3703=
XM_011522533.1:c.11028G>C (PKD1)	XP_011520835.1:p.Arg3676=
XM_011522534.1:c.10971G>C (PKD1)	XP_011520836.1:p.Arg3657=
XM_011522535.1:c.9057G>C (PKD1)	XP_011520837.1:p.Arg3019=
XM_011522537.1:c.8235G>C (PKD1)	XP_011520839.1:p.Arg2745=
XR_932867.1:n.11250G>C (PKD1)
XR_932868.1:n.11110-404G>C (PKD1)
XR_932869.1:n.11110-404G>C (PKD1)
XR_932870.1:n.11110G>C (PKD1)
XR_933000.1:n.90-297C>G (PKD1-AS1)
XR_933001.1:n.180-297C>G (PKD1-AS1)
XR_933002.1:n.89-297C>G (PKD1-AS1)
XR_933003.1:n.89-297C>G (PKD1-AS1)
NR_135175.1:n.180-297C>G (PKD1-AS1)
XM_005255370.3:c.8112G>C (PKD1)	XP_005255427.1:p.Arg2704=
XM_011522528.3:c.11211G>C (PKD1)	XP_011520830.1:p.Arg3737=
XM_011522529.2:c.11208G>C (PKD1)	XP_011520831.1:p.Arg3736=
XM_011522537.2:c.8235G>C (PKD1)	XP_011520839.1:p.Arg2745=
XM_024450298.1:c.11277G>C (PKD1)	XP_024306066.1:p.Arg3759=
XM_024450299.1:c.11205G>C (PKD1)	XP_024306067.1:p.Arg3735=
XM_024450300.1:c.11067G>C (PKD1)	XP_024306068.1:p.Arg3689=
XM_024450301.1:c.9153G>C (PKD1)	XP_024306069.1:p.Arg3051=
NM_000296.4:c.11154G>C (PKD1)	NP_000287.4:p.Arg3718=
NM_001009944.3:c.11157G>C (PKD1) MANE Select	NP_001009944.3:p.Arg3719=