Canonical Allele Identifier: CA394336396

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 2645988
• ClinVar RCV Id: RCV003395243
• MyVariant Identifiers: chr16:g.2142563G>T (hg19) ; chr16:g.2092562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092562G>T , CM000678.2:g.2092562G>T	GRCh38
NC_000016.9:g.2142563G>T , CM000678.1:g.2142563G>T	GRCh37
NC_000016.8:g.2082564G>T	NCBI36
NG_008617.1:g.50659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11187C>A (PKD1) MANE Select	ENSP00000262304.4:p.His3729Gln
ENST00000262304.8:c.11187C>A (PKD1)	ENSP00000262304.4:p.His3729Gln
ENST00000423118.5:c.11184C>A (PKD1)	ENSP00000399501.1:p.His3728Gln
ENST00000485120.1:n.36C>A (PKD1)
ENST00000487932.5:c.5749C>A (PKD1)	ENSP00000457132.1:n.5749C>A
ENST00000562425.1:c.300C>A (PKD1)
ENST00000567355.1:n.350C>A (PKD1)
NM_000296.3:c.11184C>A (PKD1)	NP_000287.3:p.His3728Gln
NM_001009944.2:c.11187C>A (PKD1)	NP_001009944.2:p.His3729Gln
XM_005255370.2:c.8142C>A (PKD1)	XP_005255427.1:p.His2714Gln
XM_011522525.1:c.11265C>A (PKD1)	XP_011520827.1:p.His3755Gln
XM_011522526.1:c.11262C>A (PKD1)	XP_011520828.1:p.His3754Gln
XM_011522527.1:c.11247C>A (PKD1)	XP_011520829.1:p.His3749Gln
XM_011522528.1:c.11241C>A (PKD1)	XP_011520830.1:p.His3747Gln
XM_011522529.1:c.11238C>A (PKD1)	XP_011520831.1:p.His3746Gln
XM_011522530.1:c.11211C>A (PKD1)	XP_011520832.1:p.His3737Gln
XM_011522531.1:c.11193C>A (PKD1)	XP_011520833.1:p.His3731Gln
XM_011522532.1:c.11139C>A (PKD1)	XP_011520834.1:p.His3713Gln
XM_011522533.1:c.11058C>A (PKD1)	XP_011520835.1:p.His3686Gln
XM_011522534.1:c.11001C>A (PKD1)	XP_011520836.1:p.His3667Gln
XM_011522535.1:c.9087C>A (PKD1)	XP_011520837.1:p.His3029Gln
XM_011522537.1:c.8265C>A (PKD1)	XP_011520839.1:p.His2755Gln
XR_932867.1:n.11280C>A (PKD1)
XR_932868.1:n.11110-374C>A (PKD1)
XR_932869.1:n.11110-374C>A (PKD1)
XR_932870.1:n.11140C>A (PKD1)
XR_933000.1:n.90-327G>T (PKD1-AS1)
XR_933001.1:n.180-327G>T (PKD1-AS1)
XR_933002.1:n.89-327G>T (PKD1-AS1)
XR_933003.1:n.89-327G>T (PKD1-AS1)
NR_135175.1:n.180-327G>T (PKD1-AS1)
XM_005255370.3:c.8142C>A (PKD1)	XP_005255427.1:p.His2714Gln
XM_011522528.3:c.11241C>A (PKD1)	XP_011520830.1:p.His3747Gln
XM_011522529.2:c.11238C>A (PKD1)	XP_011520831.1:p.His3746Gln
XM_011522537.2:c.8265C>A (PKD1)	XP_011520839.1:p.His2755Gln
XM_024450298.1:c.11307C>A (PKD1)	XP_024306066.1:p.His3769Gln
XM_024450299.1:c.11235C>A (PKD1)	XP_024306067.1:p.His3745Gln
XM_024450300.1:c.11097C>A (PKD1)	XP_024306068.1:p.His3699Gln
XM_024450301.1:c.9183C>A (PKD1)	XP_024306069.1:p.His3061Gln
NM_000296.4:c.11184C>A (PKD1)	NP_000287.4:p.His3728Gln
NM_001009944.3:c.11187C>A (PKD1) MANE Select	NP_001009944.3:p.His3729Gln