Canonical Allele Identifier: CA276767256

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs528412980
• gnomAD v3: 16-2092390-G-C
• gnomAD v4: 16-2092390-G-C
• MyVariant Identifiers: chr16:g.2142391G>C (hg19) ; chr16:g.2092390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092390G>C , CM000678.2:g.2092390G>C	GRCh38
NC_000016.9:g.2142391G>C , CM000678.1:g.2142391G>C	GRCh37
NC_000016.8:g.2082392G>C	NCBI36
NG_008617.1:g.50831C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11269+90C>G (PKD1) MANE Select	ENSP00000262304.4:n.11269+90C>G
ENST00000262304.8:c.11269+90C>G (PKD1)	ENSP00000262304.4:n.11269+90C>G
ENST00000423118.5:c.11266+90C>G (PKD1)	ENSP00000399501.1:n.11266+90C>G
ENST00000485120.1:n.118+90C>G (PKD1)
ENST00000487932.5:c.5831+90C>G (PKD1)	ENSP00000457132.1:n.5831+90C>G
ENST00000562425.1:c.382+90C>G (PKD1)
ENST00000567355.1:n.432+90C>G (PKD1)
NM_000296.3:c.11266+90C>G (PKD1)	NP_000287.3:n.11266+90C>G
NM_001009944.2:c.11269+90C>G (PKD1)	NP_001009944.2:n.11269+90C>G
XM_005255370.2:c.8224+90C>G (PKD1)	XP_005255427.1:n.8224+90C>G
XM_011522525.1:c.11347+90C>G (PKD1)	XP_011520827.1:n.11347+90C>G
XM_011522526.1:c.11344+90C>G (PKD1)	XP_011520828.1:n.11344+90C>G
XM_011522527.1:c.11329+90C>G (PKD1)	XP_011520829.1:n.11329+90C>G
XM_011522528.1:c.11323+90C>G (PKD1)	XP_011520830.1:n.11323+90C>G
XM_011522529.1:c.11320+90C>G (PKD1)	XP_011520831.1:n.11320+90C>G
XM_011522530.1:c.11293+90C>G (PKD1)	XP_011520832.1:n.11293+90C>G
XM_011522531.1:c.11275+90C>G (PKD1)	XP_011520833.1:n.11275+90C>G
XM_011522532.1:c.11221+90C>G (PKD1)	XP_011520834.1:n.11221+90C>G
XM_011522533.1:c.11140+90C>G (PKD1)	XP_011520835.1:n.11140+90C>G
XM_011522534.1:c.11083+90C>G (PKD1)	XP_011520836.1:n.11083+90C>G
XM_011522535.1:c.9169+90C>G (PKD1)	XP_011520837.1:n.9169+90C>G
XM_011522537.1:c.8347+90C>G (PKD1)	XP_011520839.1:n.8347+90C>G
XR_932867.1:n.11362+90C>G (PKD1)
XR_932868.1:n.11110-202C>G (PKD1)
XR_932869.1:n.11110-202C>G (PKD1)
XR_932870.1:n.11222+90C>G (PKD1)
XR_933000.1:n.90-499G>C (PKD1-AS1)
XR_933001.1:n.180-499G>C (PKD1-AS1)
XR_933002.1:n.89-499G>C (PKD1-AS1)
XR_933003.1:n.89-499G>C (PKD1-AS1)
NR_135175.1:n.180-499G>C (PKD1-AS1)
XM_005255370.3:c.8224+90C>G (PKD1)	XP_005255427.1:n.8224+90C>G
XM_011522528.3:c.11323+90C>G (PKD1)	XP_011520830.1:n.11323+90C>G
XM_011522529.2:c.11320+90C>G (PKD1)	XP_011520831.1:n.11320+90C>G
XM_011522537.2:c.8347+90C>G (PKD1)	XP_011520839.1:n.8347+90C>G
XM_024450298.1:c.11389+90C>G (PKD1)	XP_024306066.1:n.11389+90C>G
XM_024450299.1:c.11317+90C>G (PKD1)	XP_024306067.1:n.11317+90C>G
XM_024450300.1:c.11179+90C>G (PKD1)	XP_024306068.1:n.11179+90C>G
XM_024450301.1:c.9265+90C>G (PKD1)	XP_024306069.1:n.9265+90C>G
NM_000296.4:c.11266+90C>G (PKD1)	NP_000287.4:n.11266+90C>G
NM_001009944.3:c.11269+90C>G (PKD1) MANE Select	NP_001009944.3:n.11269+90C>G