Canonical Allele Identifier: CA394336569

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092594-T-C
• MyVariant Identifiers: chr16:g.2142595T>C (hg19) ; chr16:g.2092594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092594T>C , CM000678.2:g.2092594T>C	GRCh38
NC_000016.9:g.2142595T>C , CM000678.1:g.2142595T>C	GRCh37
NC_000016.8:g.2082596T>C	NCBI36
NG_008617.1:g.50627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11157-2A>G (PKD1) MANE Select	ENSP00000262304.4:n.11157-2A>G
ENST00000262304.8:c.11157-2A>G (PKD1)	ENSP00000262304.4:n.11157-2A>G
ENST00000423118.5:c.11154-2A>G (PKD1)	ENSP00000399501.1:n.11154-2A>G
ENST00000485120.1:n.4A>G (PKD1)
ENST00000487932.5:c.5719-2A>G (PKD1)	ENSP00000457132.1:n.5719-2A>G
ENST00000562425.1:c.270-2A>G (PKD1)
ENST00000567355.1:n.318A>G (PKD1)
NM_000296.3:c.11154-2A>G (PKD1)	NP_000287.3:n.11154-2A>G
NM_001009944.2:c.11157-2A>G (PKD1)	NP_001009944.2:n.11157-2A>G
XM_005255370.2:c.8112-2A>G (PKD1)	XP_005255427.1:n.8112-2A>G
XM_011522525.1:c.11235-2A>G (PKD1)	XP_011520827.1:n.11235-2A>G
XM_011522526.1:c.11232-2A>G (PKD1)	XP_011520828.1:n.11232-2A>G
XM_011522527.1:c.11217-2A>G (PKD1)	XP_011520829.1:n.11217-2A>G
XM_011522528.1:c.11211-2A>G (PKD1)	XP_011520830.1:n.11211-2A>G
XM_011522529.1:c.11208-2A>G (PKD1)	XP_011520831.1:n.11208-2A>G
XM_011522530.1:c.11181-2A>G (PKD1)	XP_011520832.1:n.11181-2A>G
XM_011522531.1:c.11163-2A>G (PKD1)	XP_011520833.1:n.11163-2A>G
XM_011522532.1:c.11109-2A>G (PKD1)	XP_011520834.1:n.11109-2A>G
XM_011522533.1:c.11028-2A>G (PKD1)	XP_011520835.1:n.11028-2A>G
XM_011522534.1:c.10971-2A>G (PKD1)	XP_011520836.1:n.10971-2A>G
XM_011522535.1:c.9057-2A>G (PKD1)	XP_011520837.1:n.9057-2A>G
XM_011522537.1:c.8235-2A>G (PKD1)	XP_011520839.1:n.8235-2A>G
XR_932867.1:n.11250-2A>G (PKD1)
XR_932868.1:n.11110-406A>G (PKD1)
XR_932869.1:n.11110-406A>G (PKD1)
XR_932870.1:n.11110-2A>G (PKD1)
XR_933000.1:n.90-295T>C (PKD1-AS1)
XR_933001.1:n.180-295T>C (PKD1-AS1)
XR_933002.1:n.89-295T>C (PKD1-AS1)
XR_933003.1:n.89-295T>C (PKD1-AS1)
NR_135175.1:n.180-295T>C (PKD1-AS1)
XM_005255370.3:c.8112-2A>G (PKD1)	XP_005255427.1:n.8112-2A>G
XM_011522528.3:c.11211-2A>G (PKD1)	XP_011520830.1:n.11211-2A>G
XM_011522529.2:c.11208-2A>G (PKD1)	XP_011520831.1:n.11208-2A>G
XM_011522537.2:c.8235-2A>G (PKD1)	XP_011520839.1:n.8235-2A>G
XM_024450298.1:c.11277-2A>G (PKD1)	XP_024306066.1:n.11277-2A>G
XM_024450299.1:c.11205-2A>G (PKD1)	XP_024306067.1:n.11205-2A>G
XM_024450300.1:c.11067-2A>G (PKD1)	XP_024306068.1:n.11067-2A>G
XM_024450301.1:c.9153-2A>G (PKD1)	XP_024306069.1:n.9153-2A>G
NM_000296.4:c.11154-2A>G (PKD1)	NP_000287.4:n.11154-2A>G
NM_001009944.3:c.11157-2A>G (PKD1) MANE Select	NP_001009944.3:n.11157-2A>G