Canonical Allele Identifier: CA394341231

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094094-G-T
• MyVariant Identifiers: chr16:g.2144095G>T (hg19) ; chr16:g.2094094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094094G>T , CM000678.2:g.2094094G>T	GRCh38
NC_000016.9:g.2144095G>T , CM000678.1:g.2144095G>T	GRCh37
NC_000016.8:g.2084096G>T	NCBI36
NG_008617.1:g.49127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10616C>A (PKD1) MANE Select	ENSP00000262304.4:p.Thr3539Lys
ENST00000262304.8:c.10616C>A (PKD1)	ENSP00000262304.4:p.Thr3539Lys
ENST00000423118.5:c.10613C>A (PKD1)	ENSP00000399501.1:p.Thr3538Lys
ENST00000472659.1:n.53C>A (PKD1)
ENST00000487932.5:c.5178C>A (PKD1)	ENSP00000457132.1:n.5178C>A
NM_000296.3:c.10613C>A (PKD1)	NP_000287.3:p.Thr3538Lys
NM_001009944.2:c.10616C>A (PKD1)	NP_001009944.2:p.Thr3539Lys
XM_005255370.2:c.7571C>A (PKD1)	XP_005255427.1:p.Thr2524Lys
XM_011522525.1:c.10694C>A (PKD1)	XP_011520827.1:p.Thr3565Lys
XM_011522526.1:c.10691C>A (PKD1)	XP_011520828.1:p.Thr3564Lys
XM_011522527.1:c.10676C>A (PKD1)	XP_011520829.1:p.Thr3559Lys
XM_011522528.1:c.10670C>A (PKD1)	XP_011520830.1:p.Thr3557Lys
XM_011522529.1:c.10667C>A (PKD1)	XP_011520831.1:p.Thr3556Lys
XM_011522530.1:c.10640C>A (PKD1)	XP_011520832.1:p.Thr3547Lys
XM_011522531.1:c.10622C>A (PKD1)	XP_011520833.1:p.Thr3541Lys
XM_011522532.1:c.10568C>A (PKD1)	XP_011520834.1:p.Thr3523Lys
XM_011522533.1:c.10487C>A (PKD1)	XP_011520835.1:p.Thr3496Lys
XM_011522534.1:c.10430C>A (PKD1)	XP_011520836.1:p.Thr3477Lys
XM_011522535.1:c.8516C>A (PKD1)	XP_011520837.1:p.Thr2839Lys
XM_011522537.1:c.7694C>A (PKD1)	XP_011520839.1:p.Thr2565Lys
XR_932867.1:n.10709C>A (PKD1)
XR_932868.1:n.10709C>A (PKD1)
XR_932869.1:n.10709C>A (PKD1)
XR_932870.1:n.10709C>A (PKD1)
XR_933000.1:n.214-584G>T (PKD1-AS1)
XR_933001.1:n.304-627G>T (PKD1-AS1)
XR_933002.1:n.213-584G>T (PKD1-AS1)
XR_933003.1:n.213-627G>T (PKD1-AS1)
NR_135175.1:n.304-627G>T (PKD1-AS1)
XM_005255370.3:c.7571C>A (PKD1)	XP_005255427.1:p.Thr2524Lys
XM_011522528.3:c.10670C>A (PKD1)	XP_011520830.1:p.Thr3557Lys
XM_011522529.2:c.10667C>A (PKD1)	XP_011520831.1:p.Thr3556Lys
XM_011522537.2:c.7694C>A (PKD1)	XP_011520839.1:p.Thr2565Lys
XM_024450298.1:c.10736C>A (PKD1)	XP_024306066.1:p.Thr3579Lys
XM_024450299.1:c.10664C>A (PKD1)	XP_024306067.1:p.Thr3555Lys
XM_024450300.1:c.10526C>A (PKD1)	XP_024306068.1:p.Thr3509Lys
XM_024450301.1:c.8612C>A (PKD1)	XP_024306069.1:p.Thr2871Lys
NM_000296.4:c.10613C>A (PKD1)	NP_000287.4:p.Thr3538Lys
NM_001009944.3:c.10616C>A (PKD1) MANE Select	NP_001009944.3:p.Thr3539Lys