Canonical Allele Identifier: CA16609458

Gene: PKD1

Linked Data

• ClinVar Variation Id: 397587
• ClinVar RCV Id: RCV000449488
• dbSNP Id: rs1060499699
• MyVariant Identifiers: chr16:g.2167580G>T (hg19) ; chr16:g.2117579G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1295C>A MANE Select	ENSP00000262304.4:p.Ala432Glu
ENST00000262304.8:c.1295C>A	ENSP00000262304.4:p.Ala432Glu
ENST00000423118.5:c.1295C>A	ENSP00000399501.1:p.Ala432Glu
ENST00000488185.2:c.382C>A
ENST00000568591.5:c.263C>A	ENSP00000457162.1:p.Ala88Glu
ENST00000570150.1:n.428C>A
NM_000296.3:c.1295C>A	NP_000287.3:p.Ala432Glu
NM_001009944.2:c.1295C>A	NP_001009944.2:p.Ala432Glu
XM_011522525.1:c.1349C>A	XP_011520827.1:p.Ala450Glu
XM_011522526.1:c.1349C>A	XP_011520828.1:p.Ala450Glu
XM_011522527.1:c.1349C>A	XP_011520829.1:p.Ala450Glu
XM_011522528.1:c.1349C>A	XP_011520830.1:p.Ala450Glu
XM_011522529.1:c.1349C>A	XP_011520831.1:p.Ala450Glu
XM_011522530.1:c.1295C>A	XP_011520832.1:p.Ala432Glu
XM_011522531.1:c.1277C>A	XP_011520833.1:p.Ala426Glu
XM_011522532.1:c.1223C>A	XP_011520834.1:p.Ala408Glu
XM_011522533.1:c.1142C>A	XP_011520835.1:p.Ala381Glu
XM_011522534.1:c.1085C>A	XP_011520836.1:p.Ala362Glu
XM_011522536.1:c.1349C>A	XP_011520838.1:p.Ala450Glu
XR_932867.1:n.1364C>A
XR_932868.1:n.1364C>A
XR_932869.1:n.1364C>A
XR_932870.1:n.1364C>A
XM_011522528.3:c.1349C>A	XP_011520830.1:p.Ala450Glu
XM_011522529.2:c.1349C>A	XP_011520831.1:p.Ala450Glu
XM_024450298.1:c.1295C>A	XP_024306066.1:p.Ala432Glu
XM_024450299.1:c.1223C>A	XP_024306067.1:p.Ala408Glu
XM_024450300.1:c.1085C>A	XP_024306068.1:p.Ala362Glu
NM_000296.4:c.1295C>A	NP_000287.4:p.Ala432Glu
NM_001009944.3:c.1295C>A MANE Select	NP_001009944.3:p.Ala432Glu