Canonical Allele Identifier: CA394336543

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092587-T-A
• MyVariant Identifiers: chr16:g.2142588T>A (hg19) ; chr16:g.2092587T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092587T>A , CM000678.2:g.2092587T>A	GRCh38
NC_000016.9:g.2142588T>A , CM000678.1:g.2142588T>A	GRCh37
NC_000016.8:g.2082589T>A	NCBI36
NG_008617.1:g.50634A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11162A>T (PKD1) MANE Select	ENSP00000262304.4:p.Glu3721Val
ENST00000262304.8:c.11162A>T (PKD1)	ENSP00000262304.4:p.Glu3721Val
ENST00000423118.5:c.11159A>T (PKD1)	ENSP00000399501.1:p.Glu3720Val
ENST00000485120.1:n.11A>T (PKD1)
ENST00000487932.5:c.5724A>T (PKD1)	ENSP00000457132.1:n.5724A>T
ENST00000562425.1:c.275A>T (PKD1)
ENST00000567355.1:n.325A>T (PKD1)
NM_000296.3:c.11159A>T (PKD1)	NP_000287.3:p.Glu3720Val
NM_001009944.2:c.11162A>T (PKD1)	NP_001009944.2:p.Glu3721Val
XM_005255370.2:c.8117A>T (PKD1)	XP_005255427.1:p.Glu2706Val
XM_011522525.1:c.11240A>T (PKD1)	XP_011520827.1:p.Glu3747Val
XM_011522526.1:c.11237A>T (PKD1)	XP_011520828.1:p.Glu3746Val
XM_011522527.1:c.11222A>T (PKD1)	XP_011520829.1:p.Glu3741Val
XM_011522528.1:c.11216A>T (PKD1)	XP_011520830.1:p.Glu3739Val
XM_011522529.1:c.11213A>T (PKD1)	XP_011520831.1:p.Glu3738Val
XM_011522530.1:c.11186A>T (PKD1)	XP_011520832.1:p.Glu3729Val
XM_011522531.1:c.11168A>T (PKD1)	XP_011520833.1:p.Glu3723Val
XM_011522532.1:c.11114A>T (PKD1)	XP_011520834.1:p.Glu3705Val
XM_011522533.1:c.11033A>T (PKD1)	XP_011520835.1:p.Glu3678Val
XM_011522534.1:c.10976A>T (PKD1)	XP_011520836.1:p.Glu3659Val
XM_011522535.1:c.9062A>T (PKD1)	XP_011520837.1:p.Glu3021Val
XM_011522537.1:c.8240A>T (PKD1)	XP_011520839.1:p.Glu2747Val
XR_932867.1:n.11255A>T (PKD1)
XR_932868.1:n.11110-399A>T (PKD1)
XR_932869.1:n.11110-399A>T (PKD1)
XR_932870.1:n.11115A>T (PKD1)
XR_933000.1:n.90-302T>A (PKD1-AS1)
XR_933001.1:n.180-302T>A (PKD1-AS1)
XR_933002.1:n.89-302T>A (PKD1-AS1)
XR_933003.1:n.89-302T>A (PKD1-AS1)
NR_135175.1:n.180-302T>A (PKD1-AS1)
XM_005255370.3:c.8117A>T (PKD1)	XP_005255427.1:p.Glu2706Val
XM_011522528.3:c.11216A>T (PKD1)	XP_011520830.1:p.Glu3739Val
XM_011522529.2:c.11213A>T (PKD1)	XP_011520831.1:p.Glu3738Val
XM_011522537.2:c.8240A>T (PKD1)	XP_011520839.1:p.Glu2747Val
XM_024450298.1:c.11282A>T (PKD1)	XP_024306066.1:p.Glu3761Val
XM_024450299.1:c.11210A>T (PKD1)	XP_024306067.1:p.Glu3737Val
XM_024450300.1:c.11072A>T (PKD1)	XP_024306068.1:p.Glu3691Val
XM_024450301.1:c.9158A>T (PKD1)	XP_024306069.1:p.Glu3053Val
NM_000296.4:c.11159A>T (PKD1)	NP_000287.4:p.Glu3720Val
NM_001009944.3:c.11162A>T (PKD1) MANE Select	NP_001009944.3:p.Glu3721Val