Canonical Allele Identifier: CA394336540

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142587C>G (hg19) ; chr16:g.2092586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092586C>G , CM000678.2:g.2092586C>G	GRCh38
NC_000016.9:g.2142587C>G , CM000678.1:g.2142587C>G	GRCh37
NC_000016.8:g.2082588C>G	NCBI36
NG_008617.1:g.50635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11163G>C (PKD1) MANE Select	ENSP00000262304.4:p.Glu3721Asp
ENST00000262304.8:c.11163G>C (PKD1)	ENSP00000262304.4:p.Glu3721Asp
ENST00000423118.5:c.11160G>C (PKD1)	ENSP00000399501.1:p.Glu3720Asp
ENST00000485120.1:n.12G>C (PKD1)
ENST00000487932.5:c.5725G>C (PKD1)	ENSP00000457132.1:n.5725G>C
ENST00000562425.1:c.276G>C (PKD1)
ENST00000567355.1:n.326G>C (PKD1)
NM_000296.3:c.11160G>C (PKD1)	NP_000287.3:p.Glu3720Asp
NM_001009944.2:c.11163G>C (PKD1)	NP_001009944.2:p.Glu3721Asp
XM_005255370.2:c.8118G>C (PKD1)	XP_005255427.1:p.Glu2706Asp
XM_011522525.1:c.11241G>C (PKD1)	XP_011520827.1:p.Glu3747Asp
XM_011522526.1:c.11238G>C (PKD1)	XP_011520828.1:p.Glu3746Asp
XM_011522527.1:c.11223G>C (PKD1)	XP_011520829.1:p.Glu3741Asp
XM_011522528.1:c.11217G>C (PKD1)	XP_011520830.1:p.Glu3739Asp
XM_011522529.1:c.11214G>C (PKD1)	XP_011520831.1:p.Glu3738Asp
XM_011522530.1:c.11187G>C (PKD1)	XP_011520832.1:p.Glu3729Asp
XM_011522531.1:c.11169G>C (PKD1)	XP_011520833.1:p.Glu3723Asp
XM_011522532.1:c.11115G>C (PKD1)	XP_011520834.1:p.Glu3705Asp
XM_011522533.1:c.11034G>C (PKD1)	XP_011520835.1:p.Glu3678Asp
XM_011522534.1:c.10977G>C (PKD1)	XP_011520836.1:p.Glu3659Asp
XM_011522535.1:c.9063G>C (PKD1)	XP_011520837.1:p.Glu3021Asp
XM_011522537.1:c.8241G>C (PKD1)	XP_011520839.1:p.Glu2747Asp
XR_932867.1:n.11256G>C (PKD1)
XR_932868.1:n.11110-398G>C (PKD1)
XR_932869.1:n.11110-398G>C (PKD1)
XR_932870.1:n.11116G>C (PKD1)
XR_933000.1:n.90-303C>G (PKD1-AS1)
XR_933001.1:n.180-303C>G (PKD1-AS1)
XR_933002.1:n.89-303C>G (PKD1-AS1)
XR_933003.1:n.89-303C>G (PKD1-AS1)
NR_135175.1:n.180-303C>G (PKD1-AS1)
XM_005255370.3:c.8118G>C (PKD1)	XP_005255427.1:p.Glu2706Asp
XM_011522528.3:c.11217G>C (PKD1)	XP_011520830.1:p.Glu3739Asp
XM_011522529.2:c.11214G>C (PKD1)	XP_011520831.1:p.Glu3738Asp
XM_011522537.2:c.8241G>C (PKD1)	XP_011520839.1:p.Glu2747Asp
XM_024450298.1:c.11283G>C (PKD1)	XP_024306066.1:p.Glu3761Asp
XM_024450299.1:c.11211G>C (PKD1)	XP_024306067.1:p.Glu3737Asp
XM_024450300.1:c.11073G>C (PKD1)	XP_024306068.1:p.Glu3691Asp
XM_024450301.1:c.9159G>C (PKD1)	XP_024306069.1:p.Glu3053Asp
NM_000296.4:c.11160G>C (PKD1)	NP_000287.4:p.Glu3720Asp
NM_001009944.3:c.11163G>C (PKD1) MANE Select	NP_001009944.3:p.Glu3721Asp