Canonical Allele Identifier: CA2631131532

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092387-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092387C>A , CM000678.2:g.2092387C>A	GRCh38
NC_000016.9:g.2142388C>A , CM000678.1:g.2142388C>A	GRCh37
NC_000016.8:g.2082389C>A	NCBI36
NG_008617.1:g.50834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11269+93G>T (PKD1) MANE Select	ENSP00000262304.4:n.11269+93G>T
ENST00000262304.8:c.11269+93G>T (PKD1)	ENSP00000262304.4:n.11269+93G>T
ENST00000423118.5:c.11266+93G>T (PKD1)	ENSP00000399501.1:n.11266+93G>T
ENST00000485120.1:n.118+93G>T (PKD1)
ENST00000487932.5:c.5831+93G>T (PKD1)	ENSP00000457132.1:n.5831+93G>T
ENST00000562425.1:c.382+93G>T (PKD1)
ENST00000567355.1:n.432+93G>T (PKD1)
NM_000296.3:c.11266+93G>T (PKD1)	NP_000287.3:n.11266+93G>T
NM_001009944.2:c.11269+93G>T (PKD1)	NP_001009944.2:n.11269+93G>T
XM_005255370.2:c.8224+93G>T (PKD1)	XP_005255427.1:n.8224+93G>T
XM_011522525.1:c.11347+93G>T (PKD1)	XP_011520827.1:n.11347+93G>T
XM_011522526.1:c.11344+93G>T (PKD1)	XP_011520828.1:n.11344+93G>T
XM_011522527.1:c.11329+93G>T (PKD1)	XP_011520829.1:n.11329+93G>T
XM_011522528.1:c.11323+93G>T (PKD1)	XP_011520830.1:n.11323+93G>T
XM_011522529.1:c.11320+93G>T (PKD1)	XP_011520831.1:n.11320+93G>T
XM_011522530.1:c.11293+93G>T (PKD1)	XP_011520832.1:n.11293+93G>T
XM_011522531.1:c.11275+93G>T (PKD1)	XP_011520833.1:n.11275+93G>T
XM_011522532.1:c.11221+93G>T (PKD1)	XP_011520834.1:n.11221+93G>T
XM_011522533.1:c.11140+93G>T (PKD1)	XP_011520835.1:n.11140+93G>T
XM_011522534.1:c.11083+93G>T (PKD1)	XP_011520836.1:n.11083+93G>T
XM_011522535.1:c.9169+93G>T (PKD1)	XP_011520837.1:n.9169+93G>T
XM_011522537.1:c.8347+93G>T (PKD1)	XP_011520839.1:n.8347+93G>T
XR_932867.1:n.11362+93G>T (PKD1)
XR_932868.1:n.11110-199G>T (PKD1)
XR_932869.1:n.11110-199G>T (PKD1)
XR_932870.1:n.11222+93G>T (PKD1)
XR_933000.1:n.90-502C>A (PKD1-AS1)
XR_933001.1:n.180-502C>A (PKD1-AS1)
XR_933002.1:n.89-502C>A (PKD1-AS1)
XR_933003.1:n.89-502C>A (PKD1-AS1)
NR_135175.1:n.180-502C>A (PKD1-AS1)
XM_005255370.3:c.8224+93G>T (PKD1)	XP_005255427.1:n.8224+93G>T
XM_011522528.3:c.11323+93G>T (PKD1)	XP_011520830.1:n.11323+93G>T
XM_011522529.2:c.11320+93G>T (PKD1)	XP_011520831.1:n.11320+93G>T
XM_011522537.2:c.8347+93G>T (PKD1)	XP_011520839.1:n.8347+93G>T
XM_024450298.1:c.11389+93G>T (PKD1)	XP_024306066.1:n.11389+93G>T
XM_024450299.1:c.11317+93G>T (PKD1)	XP_024306067.1:n.11317+93G>T
XM_024450300.1:c.11179+93G>T (PKD1)	XP_024306068.1:n.11179+93G>T
XM_024450301.1:c.9265+93G>T (PKD1)	XP_024306069.1:n.9265+93G>T
NM_000296.4:c.11266+93G>T (PKD1)	NP_000287.4:n.11266+93G>T
NM_001009944.3:c.11269+93G>T (PKD1) MANE Select	NP_001009944.3:n.11269+93G>T