Canonical Allele Identifier: CA394336324

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092549-A-T
• MyVariant Identifiers: chr16:g.2142550A>T (hg19) ; chr16:g.2092549A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092549A>T , CM000678.2:g.2092549A>T	GRCh38
NC_000016.9:g.2142550A>T , CM000678.1:g.2142550A>T	GRCh37
NC_000016.8:g.2082551A>T	NCBI36
NG_008617.1:g.50672T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11200T>A (PKD1) MANE Select	ENSP00000262304.4:p.Tyr3734Asn
ENST00000262304.8:c.11200T>A (PKD1)	ENSP00000262304.4:p.Tyr3734Asn
ENST00000423118.5:c.11197T>A (PKD1)	ENSP00000399501.1:p.Tyr3733Asn
ENST00000485120.1:n.49T>A (PKD1)
ENST00000487932.5:c.5762T>A (PKD1)	ENSP00000457132.1:n.5762T>A
ENST00000562425.1:c.313T>A (PKD1)
ENST00000567355.1:n.363T>A (PKD1)
NM_000296.3:c.11197T>A (PKD1)	NP_000287.3:p.Tyr3733Asn
NM_001009944.2:c.11200T>A (PKD1)	NP_001009944.2:p.Tyr3734Asn
XM_005255370.2:c.8155T>A (PKD1)	XP_005255427.1:p.Tyr2719Asn
XM_011522525.1:c.11278T>A (PKD1)	XP_011520827.1:p.Tyr3760Asn
XM_011522526.1:c.11275T>A (PKD1)	XP_011520828.1:p.Tyr3759Asn
XM_011522527.1:c.11260T>A (PKD1)	XP_011520829.1:p.Tyr3754Asn
XM_011522528.1:c.11254T>A (PKD1)	XP_011520830.1:p.Tyr3752Asn
XM_011522529.1:c.11251T>A (PKD1)	XP_011520831.1:p.Tyr3751Asn
XM_011522530.1:c.11224T>A (PKD1)	XP_011520832.1:p.Tyr3742Asn
XM_011522531.1:c.11206T>A (PKD1)	XP_011520833.1:p.Tyr3736Asn
XM_011522532.1:c.11152T>A (PKD1)	XP_011520834.1:p.Tyr3718Asn
XM_011522533.1:c.11071T>A (PKD1)	XP_011520835.1:p.Tyr3691Asn
XM_011522534.1:c.11014T>A (PKD1)	XP_011520836.1:p.Tyr3672Asn
XM_011522535.1:c.9100T>A (PKD1)	XP_011520837.1:p.Tyr3034Asn
XM_011522537.1:c.8278T>A (PKD1)	XP_011520839.1:p.Tyr2760Asn
XR_932867.1:n.11293T>A (PKD1)
XR_932868.1:n.11110-361T>A (PKD1)
XR_932869.1:n.11110-361T>A (PKD1)
XR_932870.1:n.11153T>A (PKD1)
XR_933000.1:n.90-340A>T (PKD1-AS1)
XR_933001.1:n.180-340A>T (PKD1-AS1)
XR_933002.1:n.89-340A>T (PKD1-AS1)
XR_933003.1:n.89-340A>T (PKD1-AS1)
NR_135175.1:n.180-340A>T (PKD1-AS1)
XM_005255370.3:c.8155T>A (PKD1)	XP_005255427.1:p.Tyr2719Asn
XM_011522528.3:c.11254T>A (PKD1)	XP_011520830.1:p.Tyr3752Asn
XM_011522529.2:c.11251T>A (PKD1)	XP_011520831.1:p.Tyr3751Asn
XM_011522537.2:c.8278T>A (PKD1)	XP_011520839.1:p.Tyr2760Asn
XM_024450298.1:c.11320T>A (PKD1)	XP_024306066.1:p.Tyr3774Asn
XM_024450299.1:c.11248T>A (PKD1)	XP_024306067.1:p.Tyr3750Asn
XM_024450300.1:c.11110T>A (PKD1)	XP_024306068.1:p.Tyr3704Asn
XM_024450301.1:c.9196T>A (PKD1)	XP_024306069.1:p.Tyr3066Asn
NM_000296.4:c.11197T>A (PKD1)	NP_000287.4:p.Tyr3733Asn
NM_001009944.3:c.11200T>A (PKD1) MANE Select	NP_001009944.3:p.Tyr3734Asn