Canonical Allele Identifier: CA394341463

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1057516041
• gnomAD v2: 16-2144128-C-A
• gnomAD v4: 16-2094127-C-A
• MyVariant Identifiers: chr16:g.2144128C>A (hg19) ; chr16:g.2094127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094127C>A , CM000678.2:g.2094127C>A	GRCh38
NC_000016.9:g.2144128C>A , CM000678.1:g.2144128C>A	GRCh37
NC_000016.8:g.2084129C>A	NCBI36
NG_008617.1:g.49094G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.10583G>T (PKD1) MANE Select	ENSP00000262304.4:p.Trp3528Leu
ENST00000262304.8:c.10583G>T (PKD1)	ENSP00000262304.4:p.Trp3528Leu
ENST00000423118.5:c.10580G>T (PKD1)	ENSP00000399501.1:p.Trp3527Leu
ENST00000472659.1:n.20G>T (PKD1)
ENST00000487932.5:c.5145G>T (PKD1)	ENSP00000457132.1:n.5145G>T
NM_000296.3:c.10580G>T (PKD1)	NP_000287.3:p.Trp3527Leu
NM_001009944.2:c.10583G>T (PKD1)	NP_001009944.2:p.Trp3528Leu
XM_005255370.2:c.7538G>T (PKD1)	XP_005255427.1:p.Trp2513Leu
XM_011522525.1:c.10661G>T (PKD1)	XP_011520827.1:p.Trp3554Leu
XM_011522526.1:c.10658G>T (PKD1)	XP_011520828.1:p.Trp3553Leu
XM_011522527.1:c.10643G>T (PKD1)	XP_011520829.1:p.Trp3548Leu
XM_011522528.1:c.10637G>T (PKD1)	XP_011520830.1:p.Trp3546Leu
XM_011522529.1:c.10634G>T (PKD1)	XP_011520831.1:p.Trp3545Leu
XM_011522530.1:c.10607G>T (PKD1)	XP_011520832.1:p.Trp3536Leu
XM_011522531.1:c.10589G>T (PKD1)	XP_011520833.1:p.Trp3530Leu
XM_011522532.1:c.10535G>T (PKD1)	XP_011520834.1:p.Trp3512Leu
XM_011522533.1:c.10454G>T (PKD1)	XP_011520835.1:p.Trp3485Leu
XM_011522534.1:c.10397G>T (PKD1)	XP_011520836.1:p.Trp3466Leu
XM_011522535.1:c.8483G>T (PKD1)	XP_011520837.1:p.Trp2828Leu
XM_011522537.1:c.7661G>T (PKD1)	XP_011520839.1:p.Trp2554Leu
XR_932867.1:n.10676G>T (PKD1)
XR_932868.1:n.10676G>T (PKD1)
XR_932869.1:n.10676G>T (PKD1)
XR_932870.1:n.10676G>T (PKD1)
XR_933000.1:n.214-551C>A (PKD1-AS1)
XR_933001.1:n.304-594C>A (PKD1-AS1)
XR_933002.1:n.213-551C>A (PKD1-AS1)
XR_933003.1:n.213-594C>A (PKD1-AS1)
NR_135175.1:n.304-594C>A (PKD1-AS1)
XM_005255370.3:c.7538G>T (PKD1)	XP_005255427.1:p.Trp2513Leu
XM_011522528.3:c.10637G>T (PKD1)	XP_011520830.1:p.Trp3546Leu
XM_011522529.2:c.10634G>T (PKD1)	XP_011520831.1:p.Trp3545Leu
XM_011522537.2:c.7661G>T (PKD1)	XP_011520839.1:p.Trp2554Leu
XM_024450298.1:c.10703G>T (PKD1)	XP_024306066.1:p.Trp3568Leu
XM_024450299.1:c.10631G>T (PKD1)	XP_024306067.1:p.Trp3544Leu
XM_024450300.1:c.10493G>T (PKD1)	XP_024306068.1:p.Trp3498Leu
XM_024450301.1:c.8579G>T (PKD1)	XP_024306069.1:p.Trp2860Leu
NM_000296.4:c.10580G>T (PKD1)	NP_000287.4:p.Trp3527Leu
NM_001009944.3:c.10583G>T (PKD1) MANE Select	NP_001009944.3:p.Trp3528Leu