Canonical Allele Identifier: CA492962500

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142581G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092580G>T , CM000678.2:g.2092580G>T	GRCh38
NC_000016.9:g.2142581G>T , CM000678.1:g.2142581G>T	GRCh37
NC_000016.8:g.2082582G>T	NCBI36
NG_008617.1:g.50641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11169C>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3723=
ENST00000262304.8:c.11169C>A (PKD1)	ENSP00000262304.4:p.Leu3723=
ENST00000423118.5:c.11166C>A (PKD1)	ENSP00000399501.1:p.Leu3722=
ENST00000485120.1:n.18C>A (PKD1)
ENST00000487932.5:c.5731C>A (PKD1)	ENSP00000457132.1:n.5731C>A
ENST00000562425.1:c.282C>A (PKD1)
ENST00000567355.1:n.332C>A (PKD1)
NM_000296.3:c.11166C>A (PKD1)	NP_000287.3:p.Leu3722=
NM_001009944.2:c.11169C>A (PKD1)	NP_001009944.2:p.Leu3723=
XM_005255370.2:c.8124C>A (PKD1)	XP_005255427.1:p.Leu2708=
XM_011522525.1:c.11247C>A (PKD1)	XP_011520827.1:p.Leu3749=
XM_011522526.1:c.11244C>A (PKD1)	XP_011520828.1:p.Leu3748=
XM_011522527.1:c.11229C>A (PKD1)	XP_011520829.1:p.Leu3743=
XM_011522528.1:c.11223C>A (PKD1)	XP_011520830.1:p.Leu3741=
XM_011522529.1:c.11220C>A (PKD1)	XP_011520831.1:p.Leu3740=
XM_011522530.1:c.11193C>A (PKD1)	XP_011520832.1:p.Leu3731=
XM_011522531.1:c.11175C>A (PKD1)	XP_011520833.1:p.Leu3725=
XM_011522532.1:c.11121C>A (PKD1)	XP_011520834.1:p.Leu3707=
XM_011522533.1:c.11040C>A (PKD1)	XP_011520835.1:p.Leu3680=
XM_011522534.1:c.10983C>A (PKD1)	XP_011520836.1:p.Leu3661=
XM_011522535.1:c.9069C>A (PKD1)	XP_011520837.1:p.Leu3023=
XM_011522537.1:c.8247C>A (PKD1)	XP_011520839.1:p.Leu2749=
XR_932867.1:n.11262C>A (PKD1)
XR_932868.1:n.11110-392C>A (PKD1)
XR_932869.1:n.11110-392C>A (PKD1)
XR_932870.1:n.11122C>A (PKD1)
XR_933000.1:n.90-309G>T (PKD1-AS1)
XR_933001.1:n.180-309G>T (PKD1-AS1)
XR_933002.1:n.89-309G>T (PKD1-AS1)
XR_933003.1:n.89-309G>T (PKD1-AS1)
NR_135175.1:n.180-309G>T (PKD1-AS1)
XM_005255370.3:c.8124C>A (PKD1)	XP_005255427.1:p.Leu2708=
XM_011522528.3:c.11223C>A (PKD1)	XP_011520830.1:p.Leu3741=
XM_011522529.2:c.11220C>A (PKD1)	XP_011520831.1:p.Leu3740=
XM_011522537.2:c.8247C>A (PKD1)	XP_011520839.1:p.Leu2749=
XM_024450298.1:c.11289C>A (PKD1)	XP_024306066.1:p.Leu3763=
XM_024450299.1:c.11217C>A (PKD1)	XP_024306067.1:p.Leu3739=
XM_024450300.1:c.11079C>A (PKD1)	XP_024306068.1:p.Leu3693=
XM_024450301.1:c.9165C>A (PKD1)	XP_024306069.1:p.Leu3055=
NM_000296.4:c.11166C>A (PKD1)	NP_000287.4:p.Leu3722=
NM_001009944.3:c.11169C>A (PKD1) MANE Select	NP_001009944.3:p.Leu3723=