Canonical Allele Identifier: CA394389546

Gene: PKD1

Linked Data

• dbSNP Id: rs936855162
• gnomAD v2: 16-2165418-G-C
• gnomAD v4: 16-2115417-G-C
• MyVariant Identifiers: chr16:g.2165418G>C (hg19) ; chr16:g.2115417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115417G>C , CM000678.2:g.2115417G>C	GRCh38
NC_000016.9:g.2165418G>C , CM000678.1:g.2165418G>C	GRCh37
NC_000016.8:g.2105419G>C	NCBI36
NG_008617.1:g.25482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2058C>G MANE Select	ENSP00000262304.4:p.Phe686Leu
ENST00000262304.8:c.2058C>G	ENSP00000262304.4:p.Phe686Leu
ENST00000423118.5:c.2058C>G	ENSP00000399501.1:p.Phe686Leu
ENST00000488185.2:c.472+2072C>G
ENST00000568591.5:c.989C>G	ENSP00000457162.1:n.989C>G
NM_000296.3:c.2058C>G	NP_000287.3:p.Phe686Leu
NM_001009944.2:c.2058C>G	NP_001009944.2:p.Phe686Leu
XM_011522525.1:c.2112C>G	XP_011520827.1:p.Phe704Leu
XM_011522526.1:c.2112C>G	XP_011520828.1:p.Phe704Leu
XM_011522527.1:c.2112C>G	XP_011520829.1:p.Phe704Leu
XM_011522528.1:c.2112C>G	XP_011520830.1:p.Phe704Leu
XM_011522529.1:c.2112C>G	XP_011520831.1:p.Phe704Leu
XM_011522530.1:c.2058C>G	XP_011520832.1:p.Phe686Leu
XM_011522531.1:c.2040C>G	XP_011520833.1:p.Phe680Leu
XM_011522532.1:c.1986C>G	XP_011520834.1:p.Phe662Leu
XM_011522533.1:c.1905C>G	XP_011520835.1:p.Phe635Leu
XM_011522534.1:c.1848C>G	XP_011520836.1:p.Phe616Leu
XM_011522536.1:c.2112C>G	XP_011520838.1:p.Phe704Leu
XR_932867.1:n.2127C>G
XR_932868.1:n.2127C>G
XR_932869.1:n.2127C>G
XR_932870.1:n.2127C>G
XM_011522528.3:c.2112C>G	XP_011520830.1:p.Phe704Leu
XM_011522529.2:c.2112C>G	XP_011520831.1:p.Phe704Leu
XM_024450298.1:c.2058C>G	XP_024306066.1:p.Phe686Leu
XM_024450299.1:c.1986C>G	XP_024306067.1:p.Phe662Leu
XM_024450300.1:c.1848C>G	XP_024306068.1:p.Phe616Leu
NM_000296.4:c.2058C>G	NP_000287.4:p.Phe686Leu
NM_001009944.3:c.2058C>G MANE Select	NP_001009944.3:p.Phe686Leu