Canonical Allele Identifier: CA394336410

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs752335203
• gnomAD v4: 16-2092564-G-C
• MyVariant Identifiers: chr16:g.2142565G>C (hg19) ; chr16:g.2092564G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092564G>C , CM000678.2:g.2092564G>C	GRCh38
NC_000016.9:g.2142565G>C , CM000678.1:g.2142565G>C	GRCh37
NC_000016.8:g.2082566G>C	NCBI36
NG_008617.1:g.50657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11185C>G (PKD1) MANE Select	ENSP00000262304.4:p.His3729Asp
ENST00000262304.8:c.11185C>G (PKD1)	ENSP00000262304.4:p.His3729Asp
ENST00000423118.5:c.11182C>G (PKD1)	ENSP00000399501.1:p.His3728Asp
ENST00000485120.1:n.34C>G (PKD1)
ENST00000487932.5:c.5747C>G (PKD1)	ENSP00000457132.1:n.5747C>G
ENST00000562425.1:c.298C>G (PKD1)
ENST00000567355.1:n.348C>G (PKD1)
NM_000296.3:c.11182C>G (PKD1)	NP_000287.3:p.His3728Asp
NM_001009944.2:c.11185C>G (PKD1)	NP_001009944.2:p.His3729Asp
XM_005255370.2:c.8140C>G (PKD1)	XP_005255427.1:p.His2714Asp
XM_011522525.1:c.11263C>G (PKD1)	XP_011520827.1:p.His3755Asp
XM_011522526.1:c.11260C>G (PKD1)	XP_011520828.1:p.His3754Asp
XM_011522527.1:c.11245C>G (PKD1)	XP_011520829.1:p.His3749Asp
XM_011522528.1:c.11239C>G (PKD1)	XP_011520830.1:p.His3747Asp
XM_011522529.1:c.11236C>G (PKD1)	XP_011520831.1:p.His3746Asp
XM_011522530.1:c.11209C>G (PKD1)	XP_011520832.1:p.His3737Asp
XM_011522531.1:c.11191C>G (PKD1)	XP_011520833.1:p.His3731Asp
XM_011522532.1:c.11137C>G (PKD1)	XP_011520834.1:p.His3713Asp
XM_011522533.1:c.11056C>G (PKD1)	XP_011520835.1:p.His3686Asp
XM_011522534.1:c.10999C>G (PKD1)	XP_011520836.1:p.His3667Asp
XM_011522535.1:c.9085C>G (PKD1)	XP_011520837.1:p.His3029Asp
XM_011522537.1:c.8263C>G (PKD1)	XP_011520839.1:p.His2755Asp
XR_932867.1:n.11278C>G (PKD1)
XR_932868.1:n.11110-376C>G (PKD1)
XR_932869.1:n.11110-376C>G (PKD1)
XR_932870.1:n.11138C>G (PKD1)
XR_933000.1:n.90-325G>C (PKD1-AS1)
XR_933001.1:n.180-325G>C (PKD1-AS1)
XR_933002.1:n.89-325G>C (PKD1-AS1)
XR_933003.1:n.89-325G>C (PKD1-AS1)
NR_135175.1:n.180-325G>C (PKD1-AS1)
XM_005255370.3:c.8140C>G (PKD1)	XP_005255427.1:p.His2714Asp
XM_011522528.3:c.11239C>G (PKD1)	XP_011520830.1:p.His3747Asp
XM_011522529.2:c.11236C>G (PKD1)	XP_011520831.1:p.His3746Asp
XM_011522537.2:c.8263C>G (PKD1)	XP_011520839.1:p.His2755Asp
XM_024450298.1:c.11305C>G (PKD1)	XP_024306066.1:p.His3769Asp
XM_024450299.1:c.11233C>G (PKD1)	XP_024306067.1:p.His3745Asp
XM_024450300.1:c.11095C>G (PKD1)	XP_024306068.1:p.His3699Asp
XM_024450301.1:c.9181C>G (PKD1)	XP_024306069.1:p.His3061Asp
NM_000296.4:c.11182C>G (PKD1)	NP_000287.4:p.His3728Asp
NM_001009944.3:c.11185C>G (PKD1) MANE Select	NP_001009944.3:p.His3729Asp