Canonical Allele Identifier: CA394341519

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2144134A>T (hg19) ; chr16:g.2094133A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094133A>T , CM000678.2:g.2094133A>T	GRCh38
NC_000016.9:g.2144134A>T , CM000678.1:g.2144134A>T	GRCh37
NC_000016.8:g.2084135A>T	NCBI36
NG_008617.1:g.49088T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10577T>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3526Gln
ENST00000262304.8:c.10577T>A (PKD1)	ENSP00000262304.4:p.Leu3526Gln
ENST00000423118.5:c.10574T>A (PKD1)	ENSP00000399501.1:p.Leu3525Gln
ENST00000472659.1:n.14T>A (PKD1)
ENST00000487932.5:c.5139T>A (PKD1)	ENSP00000457132.1:n.5139T>A
NM_000296.3:c.10574T>A (PKD1)	NP_000287.3:p.Leu3525Gln
NM_001009944.2:c.10577T>A (PKD1)	NP_001009944.2:p.Leu3526Gln
XM_005255370.2:c.7532T>A (PKD1)	XP_005255427.1:p.Leu2511Gln
XM_011522525.1:c.10655T>A (PKD1)	XP_011520827.1:p.Leu3552Gln
XM_011522526.1:c.10652T>A (PKD1)	XP_011520828.1:p.Leu3551Gln
XM_011522527.1:c.10637T>A (PKD1)	XP_011520829.1:p.Leu3546Gln
XM_011522528.1:c.10631T>A (PKD1)	XP_011520830.1:p.Leu3544Gln
XM_011522529.1:c.10628T>A (PKD1)	XP_011520831.1:p.Leu3543Gln
XM_011522530.1:c.10601T>A (PKD1)	XP_011520832.1:p.Leu3534Gln
XM_011522531.1:c.10583T>A (PKD1)	XP_011520833.1:p.Leu3528Gln
XM_011522532.1:c.10529T>A (PKD1)	XP_011520834.1:p.Leu3510Gln
XM_011522533.1:c.10448T>A (PKD1)	XP_011520835.1:p.Leu3483Gln
XM_011522534.1:c.10391T>A (PKD1)	XP_011520836.1:p.Leu3464Gln
XM_011522535.1:c.8477T>A (PKD1)	XP_011520837.1:p.Leu2826Gln
XM_011522537.1:c.7655T>A (PKD1)	XP_011520839.1:p.Leu2552Gln
XR_932867.1:n.10670T>A (PKD1)
XR_932868.1:n.10670T>A (PKD1)
XR_932869.1:n.10670T>A (PKD1)
XR_932870.1:n.10670T>A (PKD1)
XR_933000.1:n.214-545A>T (PKD1-AS1)
XR_933001.1:n.304-588A>T (PKD1-AS1)
XR_933002.1:n.213-545A>T (PKD1-AS1)
XR_933003.1:n.213-588A>T (PKD1-AS1)
NR_135175.1:n.304-588A>T (PKD1-AS1)
XM_005255370.3:c.7532T>A (PKD1)	XP_005255427.1:p.Leu2511Gln
XM_011522528.3:c.10631T>A (PKD1)	XP_011520830.1:p.Leu3544Gln
XM_011522529.2:c.10628T>A (PKD1)	XP_011520831.1:p.Leu3543Gln
XM_011522537.2:c.7655T>A (PKD1)	XP_011520839.1:p.Leu2552Gln
XM_024450298.1:c.10697T>A (PKD1)	XP_024306066.1:p.Leu3566Gln
XM_024450299.1:c.10625T>A (PKD1)	XP_024306067.1:p.Leu3542Gln
XM_024450300.1:c.10487T>A (PKD1)	XP_024306068.1:p.Leu3496Gln
XM_024450301.1:c.8573T>A (PKD1)	XP_024306069.1:p.Leu2858Gln
NM_000296.4:c.10574T>A (PKD1)	NP_000287.4:p.Leu3525Gln
NM_001009944.3:c.10577T>A (PKD1) MANE Select	NP_001009944.3:p.Leu3526Gln