Canonical Allele Identifier: CA394391699

Gene: PKD1

Linked Data

• ClinVar Variation Id: 433946
• ClinVar RCV Id: RCV000504528 ; RCV003403159
• dbSNP Id: rs750798165
• gnomAD v4: 16-2116856-T-C
• MyVariant Identifiers: chr16:g.2166857T>C (hg19) ; chr16:g.2116856T>C (hg38)
• PubMed: PMID:17574468 ; PMID:21551026 ; PMID:22031115

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2116856T>C , CM000678.2:g.2116856T>C	GRCh38
NC_000016.9:g.2166857T>C , CM000678.1:g.2166857T>C	GRCh37
NC_000016.8:g.2106858T>C	NCBI36
NG_008617.1:g.24043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1583A>G MANE Select	ENSP00000262304.4:p.Tyr528Cys
ENST00000262304.8:c.1583A>G	ENSP00000262304.4:p.Tyr528Cys
ENST00000423118.5:c.1583A>G	ENSP00000399501.1:p.Tyr528Cys
ENST00000488185.2:c.472+633A>G
ENST00000568591.5:c.514A>G	ENSP00000457162.1:p.Thr172Ala
ENST00000570150.1:n.519-212A>G
NM_000296.3:c.1583A>G	NP_000287.3:p.Tyr528Cys
NM_001009944.2:c.1583A>G	NP_001009944.2:p.Tyr528Cys
XM_011522525.1:c.1637A>G	XP_011520827.1:p.Tyr546Cys
XM_011522526.1:c.1637A>G	XP_011520828.1:p.Tyr546Cys
XM_011522527.1:c.1637A>G	XP_011520829.1:p.Tyr546Cys
XM_011522528.1:c.1637A>G	XP_011520830.1:p.Tyr546Cys
XM_011522529.1:c.1637A>G	XP_011520831.1:p.Tyr546Cys
XM_011522530.1:c.1583A>G	XP_011520832.1:p.Tyr528Cys
XM_011522531.1:c.1565A>G	XP_011520833.1:p.Tyr522Cys
XM_011522532.1:c.1511A>G	XP_011520834.1:p.Tyr504Cys
XM_011522533.1:c.1430A>G	XP_011520835.1:p.Tyr477Cys
XM_011522534.1:c.1373A>G	XP_011520836.1:p.Tyr458Cys
XM_011522536.1:c.1637A>G	XP_011520838.1:p.Tyr546Cys
XR_932867.1:n.1652A>G
XR_932868.1:n.1652A>G
XR_932869.1:n.1652A>G
XR_932870.1:n.1652A>G
XM_011522528.3:c.1637A>G	XP_011520830.1:p.Tyr546Cys
XM_011522529.2:c.1637A>G	XP_011520831.1:p.Tyr546Cys
XM_024450298.1:c.1583A>G	XP_024306066.1:p.Tyr528Cys
XM_024450299.1:c.1511A>G	XP_024306067.1:p.Tyr504Cys
XM_024450300.1:c.1373A>G	XP_024306068.1:p.Tyr458Cys
NM_000296.4:c.1583A>G	NP_000287.4:p.Tyr528Cys
NM_001009944.3:c.1583A>G MANE Select	NP_001009944.3:p.Tyr528Cys