Canonical Allele Identifier: CA394336677

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 440073
• ClinVar RCV Id: RCV000506356 ; RCV000788854
• dbSNP Id: rs1555446576
• COSMIC: COSM5499240
• MyVariant Identifiers: chr16:g.2142955C>T (hg19) ; chr16:g.2092954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092954C>T , CM000678.2:g.2092954C>T	GRCh38
NC_000016.9:g.2142955C>T , CM000678.1:g.2142955C>T	GRCh37
NC_000016.8:g.2082956C>T	NCBI36
NG_008617.1:g.50267G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11156G>A (PKD1) MANE Select	ENSP00000262304.4:p.Arg3719Gln
ENST00000262304.8:c.11156G>A (PKD1)	ENSP00000262304.4:p.Arg3719Gln
ENST00000423118.5:c.11153G>A (PKD1)	ENSP00000399501.1:p.Arg3718Gln
ENST00000472659.1:n.593G>A (PKD1)
ENST00000487932.5:c.5718G>A (PKD1)	ENSP00000457132.1:n.5718G>A
ENST00000562425.1:c.270-362G>A (PKD1)
NM_000296.3:c.11153G>A (PKD1)	NP_000287.3:p.Arg3718Gln
NM_001009944.2:c.11156G>A (PKD1)	NP_001009944.2:p.Arg3719Gln
XM_005255370.2:c.8111G>A (PKD1)	XP_005255427.1:p.Arg2704Gln
XM_011522525.1:c.11234G>A (PKD1)	XP_011520827.1:p.Arg3745Gln
XM_011522526.1:c.11231G>A (PKD1)	XP_011520828.1:p.Arg3744Gln
XM_011522527.1:c.11216G>A (PKD1)	XP_011520829.1:p.Arg3739Gln
XM_011522528.1:c.11210G>A (PKD1)	XP_011520830.1:p.Arg3737Gln
XM_011522529.1:c.11207G>A (PKD1)	XP_011520831.1:p.Arg3736Gln
XM_011522530.1:c.11180G>A (PKD1)	XP_011520832.1:p.Arg3727Gln
XM_011522531.1:c.11162G>A (PKD1)	XP_011520833.1:p.Arg3721Gln
XM_011522532.1:c.11108G>A (PKD1)	XP_011520834.1:p.Arg3703Gln
XM_011522533.1:c.11027G>A (PKD1)	XP_011520835.1:p.Arg3676Gln
XM_011522534.1:c.10970G>A (PKD1)	XP_011520836.1:p.Arg3657Gln
XM_011522535.1:c.9056G>A (PKD1)	XP_011520837.1:p.Arg3019Gln
XM_011522537.1:c.8234G>A (PKD1)	XP_011520839.1:p.Arg2745Gln
XR_932867.1:n.11249G>A (PKD1)
XR_932868.1:n.11109+590G>A (PKD1)
XR_932869.1:n.11109+590G>A (PKD1)
XR_932870.1:n.11110-362G>A (PKD1)
XR_933000.1:n.155C>T (PKD1-AS1)
XR_933001.1:n.245C>T (PKD1-AS1)
XR_933002.1:n.154C>T (PKD1-AS1)
XR_933003.1:n.154C>T (PKD1-AS1)
NR_135175.1:n.245C>T (PKD1-AS1)
XM_005255370.3:c.8111G>A (PKD1)	XP_005255427.1:p.Arg2704Gln
XM_011522528.3:c.11210G>A (PKD1)	XP_011520830.1:p.Arg3737Gln
XM_011522529.2:c.11207G>A (PKD1)	XP_011520831.1:p.Arg3736Gln
XM_011522537.2:c.8234G>A (PKD1)	XP_011520839.1:p.Arg2745Gln
XM_024450298.1:c.11276G>A (PKD1)	XP_024306066.1:p.Arg3759Gln
XM_024450299.1:c.11204G>A (PKD1)	XP_024306067.1:p.Arg3735Gln
XM_024450300.1:c.11066G>A (PKD1)	XP_024306068.1:p.Arg3689Gln
XM_024450301.1:c.9152G>A (PKD1)	XP_024306069.1:p.Arg3051Gln
NM_000296.4:c.11153G>A (PKD1)	NP_000287.4:p.Arg3718Gln
NM_001009944.3:c.11156G>A (PKD1) MANE Select	NP_001009944.3:p.Arg3719Gln