Canonical Allele Identifier: CA394336522

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092583-C-A
• MyVariant Identifiers: chr16:g.2142584C>A (hg19) ; chr16:g.2092583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092583C>A , CM000678.2:g.2092583C>A	GRCh38
NC_000016.9:g.2142584C>A , CM000678.1:g.2142584C>A	GRCh37
NC_000016.8:g.2082585C>A	NCBI36
NG_008617.1:g.50638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11166G>T (PKD1) MANE Select	ENSP00000262304.4:p.Glu3722Asp
ENST00000262304.8:c.11166G>T (PKD1)	ENSP00000262304.4:p.Glu3722Asp
ENST00000423118.5:c.11163G>T (PKD1)	ENSP00000399501.1:p.Glu3721Asp
ENST00000485120.1:n.15G>T (PKD1)
ENST00000487932.5:c.5728G>T (PKD1)	ENSP00000457132.1:n.5728G>T
ENST00000562425.1:c.279G>T (PKD1)
ENST00000567355.1:n.329G>T (PKD1)
NM_000296.3:c.11163G>T (PKD1)	NP_000287.3:p.Glu3721Asp
NM_001009944.2:c.11166G>T (PKD1)	NP_001009944.2:p.Glu3722Asp
XM_005255370.2:c.8121G>T (PKD1)	XP_005255427.1:p.Glu2707Asp
XM_011522525.1:c.11244G>T (PKD1)	XP_011520827.1:p.Glu3748Asp
XM_011522526.1:c.11241G>T (PKD1)	XP_011520828.1:p.Glu3747Asp
XM_011522527.1:c.11226G>T (PKD1)	XP_011520829.1:p.Glu3742Asp
XM_011522528.1:c.11220G>T (PKD1)	XP_011520830.1:p.Glu3740Asp
XM_011522529.1:c.11217G>T (PKD1)	XP_011520831.1:p.Glu3739Asp
XM_011522530.1:c.11190G>T (PKD1)	XP_011520832.1:p.Glu3730Asp
XM_011522531.1:c.11172G>T (PKD1)	XP_011520833.1:p.Glu3724Asp
XM_011522532.1:c.11118G>T (PKD1)	XP_011520834.1:p.Glu3706Asp
XM_011522533.1:c.11037G>T (PKD1)	XP_011520835.1:p.Glu3679Asp
XM_011522534.1:c.10980G>T (PKD1)	XP_011520836.1:p.Glu3660Asp
XM_011522535.1:c.9066G>T (PKD1)	XP_011520837.1:p.Glu3022Asp
XM_011522537.1:c.8244G>T (PKD1)	XP_011520839.1:p.Glu2748Asp
XR_932867.1:n.11259G>T (PKD1)
XR_932868.1:n.11110-395G>T (PKD1)
XR_932869.1:n.11110-395G>T (PKD1)
XR_932870.1:n.11119G>T (PKD1)
XR_933000.1:n.90-306C>A (PKD1-AS1)
XR_933001.1:n.180-306C>A (PKD1-AS1)
XR_933002.1:n.89-306C>A (PKD1-AS1)
XR_933003.1:n.89-306C>A (PKD1-AS1)
NR_135175.1:n.180-306C>A (PKD1-AS1)
XM_005255370.3:c.8121G>T (PKD1)	XP_005255427.1:p.Glu2707Asp
XM_011522528.3:c.11220G>T (PKD1)	XP_011520830.1:p.Glu3740Asp
XM_011522529.2:c.11217G>T (PKD1)	XP_011520831.1:p.Glu3739Asp
XM_011522537.2:c.8244G>T (PKD1)	XP_011520839.1:p.Glu2748Asp
XM_024450298.1:c.11286G>T (PKD1)	XP_024306066.1:p.Glu3762Asp
XM_024450299.1:c.11214G>T (PKD1)	XP_024306067.1:p.Glu3738Asp
XM_024450300.1:c.11076G>T (PKD1)	XP_024306068.1:p.Glu3692Asp
XM_024450301.1:c.9162G>T (PKD1)	XP_024306069.1:p.Glu3054Asp
NM_000296.4:c.11163G>T (PKD1)	NP_000287.4:p.Glu3721Asp
NM_001009944.3:c.11166G>T (PKD1) MANE Select	NP_001009944.3:p.Glu3722Asp