Canonical Allele Identifier: CA394336377

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142561A>C (hg19) ; chr16:g.2092560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092560A>C , CM000678.2:g.2092560A>C	GRCh38
NC_000016.9:g.2142561A>C , CM000678.1:g.2142561A>C	GRCh37
NC_000016.8:g.2082562A>C	NCBI36
NG_008617.1:g.50661T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11189T>G (PKD1) MANE Select	ENSP00000262304.4:p.Val3730Gly
ENST00000262304.8:c.11189T>G (PKD1)	ENSP00000262304.4:p.Val3730Gly
ENST00000423118.5:c.11186T>G (PKD1)	ENSP00000399501.1:p.Val3729Gly
ENST00000485120.1:n.38T>G (PKD1)
ENST00000487932.5:c.5751T>G (PKD1)	ENSP00000457132.1:n.5751T>G
ENST00000562425.1:c.302T>G (PKD1)
ENST00000567355.1:n.352T>G (PKD1)
NM_000296.3:c.11186T>G (PKD1)	NP_000287.3:p.Val3729Gly
NM_001009944.2:c.11189T>G (PKD1)	NP_001009944.2:p.Val3730Gly
XM_005255370.2:c.8144T>G (PKD1)	XP_005255427.1:p.Val2715Gly
XM_011522525.1:c.11267T>G (PKD1)	XP_011520827.1:p.Val3756Gly
XM_011522526.1:c.11264T>G (PKD1)	XP_011520828.1:p.Val3755Gly
XM_011522527.1:c.11249T>G (PKD1)	XP_011520829.1:p.Val3750Gly
XM_011522528.1:c.11243T>G (PKD1)	XP_011520830.1:p.Val3748Gly
XM_011522529.1:c.11240T>G (PKD1)	XP_011520831.1:p.Val3747Gly
XM_011522530.1:c.11213T>G (PKD1)	XP_011520832.1:p.Val3738Gly
XM_011522531.1:c.11195T>G (PKD1)	XP_011520833.1:p.Val3732Gly
XM_011522532.1:c.11141T>G (PKD1)	XP_011520834.1:p.Val3714Gly
XM_011522533.1:c.11060T>G (PKD1)	XP_011520835.1:p.Val3687Gly
XM_011522534.1:c.11003T>G (PKD1)	XP_011520836.1:p.Val3668Gly
XM_011522535.1:c.9089T>G (PKD1)	XP_011520837.1:p.Val3030Gly
XM_011522537.1:c.8267T>G (PKD1)	XP_011520839.1:p.Val2756Gly
XR_932867.1:n.11282T>G (PKD1)
XR_932868.1:n.11110-372T>G (PKD1)
XR_932869.1:n.11110-372T>G (PKD1)
XR_932870.1:n.11142T>G (PKD1)
XR_933000.1:n.90-329A>C (PKD1-AS1)
XR_933001.1:n.180-329A>C (PKD1-AS1)
XR_933002.1:n.89-329A>C (PKD1-AS1)
XR_933003.1:n.89-329A>C (PKD1-AS1)
NR_135175.1:n.180-329A>C (PKD1-AS1)
XM_005255370.3:c.8144T>G (PKD1)	XP_005255427.1:p.Val2715Gly
XM_011522528.3:c.11243T>G (PKD1)	XP_011520830.1:p.Val3748Gly
XM_011522529.2:c.11240T>G (PKD1)	XP_011520831.1:p.Val3747Gly
XM_011522537.2:c.8267T>G (PKD1)	XP_011520839.1:p.Val2756Gly
XM_024450298.1:c.11309T>G (PKD1)	XP_024306066.1:p.Val3770Gly
XM_024450299.1:c.11237T>G (PKD1)	XP_024306067.1:p.Val3746Gly
XM_024450300.1:c.11099T>G (PKD1)	XP_024306068.1:p.Val3700Gly
XM_024450301.1:c.9185T>G (PKD1)	XP_024306069.1:p.Val3062Gly
NM_000296.4:c.11186T>G (PKD1)	NP_000287.4:p.Val3729Gly
NM_001009944.3:c.11189T>G (PKD1) MANE Select	NP_001009944.3:p.Val3730Gly