Canonical Allele Identifier: CA394392620

Gene: PKD1

Linked Data

• ClinVar Variation Id: 636617
• ClinVar RCV Id: RCV000788499
• dbSNP Id: rs1060499699
• gnomAD v4: 16-2117579-G-A
• MyVariant Identifiers: chr16:g.2167580G>A (hg19) ; chr16:g.2117579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117579G>A , CM000678.2:g.2117579G>A	GRCh38
NC_000016.9:g.2167580G>A , CM000678.1:g.2167580G>A	GRCh37
NC_000016.8:g.2107581G>A	NCBI36
NG_008617.1:g.23320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1295C>T MANE Select	ENSP00000262304.4:p.Ala432Val
ENST00000262304.8:c.1295C>T	ENSP00000262304.4:p.Ala432Val
ENST00000423118.5:c.1295C>T	ENSP00000399501.1:p.Ala432Val
ENST00000488185.2:c.382C>T
ENST00000568591.5:c.263C>T	ENSP00000457162.1:p.Ala88Val
ENST00000570150.1:n.428C>T
NM_000296.3:c.1295C>T	NP_000287.3:p.Ala432Val
NM_001009944.2:c.1295C>T	NP_001009944.2:p.Ala432Val
XM_011522525.1:c.1349C>T	XP_011520827.1:p.Ala450Val
XM_011522526.1:c.1349C>T	XP_011520828.1:p.Ala450Val
XM_011522527.1:c.1349C>T	XP_011520829.1:p.Ala450Val
XM_011522528.1:c.1349C>T	XP_011520830.1:p.Ala450Val
XM_011522529.1:c.1349C>T	XP_011520831.1:p.Ala450Val
XM_011522530.1:c.1295C>T	XP_011520832.1:p.Ala432Val
XM_011522531.1:c.1277C>T	XP_011520833.1:p.Ala426Val
XM_011522532.1:c.1223C>T	XP_011520834.1:p.Ala408Val
XM_011522533.1:c.1142C>T	XP_011520835.1:p.Ala381Val
XM_011522534.1:c.1085C>T	XP_011520836.1:p.Ala362Val
XM_011522536.1:c.1349C>T	XP_011520838.1:p.Ala450Val
XR_932867.1:n.1364C>T
XR_932868.1:n.1364C>T
XR_932869.1:n.1364C>T
XR_932870.1:n.1364C>T
XM_011522528.3:c.1349C>T	XP_011520830.1:p.Ala450Val
XM_011522529.2:c.1349C>T	XP_011520831.1:p.Ala450Val
XM_024450298.1:c.1295C>T	XP_024306066.1:p.Ala432Val
XM_024450299.1:c.1223C>T	XP_024306067.1:p.Ala408Val
XM_024450300.1:c.1085C>T	XP_024306068.1:p.Ala362Val
NM_000296.4:c.1295C>T	NP_000287.4:p.Ala432Val
NM_001009944.3:c.1295C>T MANE Select	NP_001009944.3:p.Ala432Val