Canonical Allele Identifier: CA394336403

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092563-T-C
• MyVariant Identifiers: chr16:g.2142564T>C (hg19) ; chr16:g.2092563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092563T>C , CM000678.2:g.2092563T>C	GRCh38
NC_000016.9:g.2142564T>C , CM000678.1:g.2142564T>C	GRCh37
NC_000016.8:g.2082565T>C	NCBI36
NG_008617.1:g.50658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11186A>G (PKD1) MANE Select	ENSP00000262304.4:p.His3729Arg
ENST00000262304.8:c.11186A>G (PKD1)	ENSP00000262304.4:p.His3729Arg
ENST00000423118.5:c.11183A>G (PKD1)	ENSP00000399501.1:p.His3728Arg
ENST00000485120.1:n.35A>G (PKD1)
ENST00000487932.5:c.5748A>G (PKD1)	ENSP00000457132.1:n.5748A>G
ENST00000562425.1:c.299A>G (PKD1)
ENST00000567355.1:n.349A>G (PKD1)
NM_000296.3:c.11183A>G (PKD1)	NP_000287.3:p.His3728Arg
NM_001009944.2:c.11186A>G (PKD1)	NP_001009944.2:p.His3729Arg
XM_005255370.2:c.8141A>G (PKD1)	XP_005255427.1:p.His2714Arg
XM_011522525.1:c.11264A>G (PKD1)	XP_011520827.1:p.His3755Arg
XM_011522526.1:c.11261A>G (PKD1)	XP_011520828.1:p.His3754Arg
XM_011522527.1:c.11246A>G (PKD1)	XP_011520829.1:p.His3749Arg
XM_011522528.1:c.11240A>G (PKD1)	XP_011520830.1:p.His3747Arg
XM_011522529.1:c.11237A>G (PKD1)	XP_011520831.1:p.His3746Arg
XM_011522530.1:c.11210A>G (PKD1)	XP_011520832.1:p.His3737Arg
XM_011522531.1:c.11192A>G (PKD1)	XP_011520833.1:p.His3731Arg
XM_011522532.1:c.11138A>G (PKD1)	XP_011520834.1:p.His3713Arg
XM_011522533.1:c.11057A>G (PKD1)	XP_011520835.1:p.His3686Arg
XM_011522534.1:c.11000A>G (PKD1)	XP_011520836.1:p.His3667Arg
XM_011522535.1:c.9086A>G (PKD1)	XP_011520837.1:p.His3029Arg
XM_011522537.1:c.8264A>G (PKD1)	XP_011520839.1:p.His2755Arg
XR_932867.1:n.11279A>G (PKD1)
XR_932868.1:n.11110-375A>G (PKD1)
XR_932869.1:n.11110-375A>G (PKD1)
XR_932870.1:n.11139A>G (PKD1)
XR_933000.1:n.90-326T>C (PKD1-AS1)
XR_933001.1:n.180-326T>C (PKD1-AS1)
XR_933002.1:n.89-326T>C (PKD1-AS1)
XR_933003.1:n.89-326T>C (PKD1-AS1)
NR_135175.1:n.180-326T>C (PKD1-AS1)
XM_005255370.3:c.8141A>G (PKD1)	XP_005255427.1:p.His2714Arg
XM_011522528.3:c.11240A>G (PKD1)	XP_011520830.1:p.His3747Arg
XM_011522529.2:c.11237A>G (PKD1)	XP_011520831.1:p.His3746Arg
XM_011522537.2:c.8264A>G (PKD1)	XP_011520839.1:p.His2755Arg
XM_024450298.1:c.11306A>G (PKD1)	XP_024306066.1:p.His3769Arg
XM_024450299.1:c.11234A>G (PKD1)	XP_024306067.1:p.His3745Arg
XM_024450300.1:c.11096A>G (PKD1)	XP_024306068.1:p.His3699Arg
XM_024450301.1:c.9182A>G (PKD1)	XP_024306069.1:p.His3061Arg
NM_000296.4:c.11183A>G (PKD1)	NP_000287.4:p.His3728Arg
NM_001009944.3:c.11186A>G (PKD1) MANE Select	NP_001009944.3:p.His3729Arg