Canonical Allele Identifier: CA7833259

Gene: PKD1

Linked Data

• ClinVar Variation Id: 256931
• ClinVar RCV Id: RCV000248015 ; RCV000712597 ; RCV001285431 ; RCV001291856
• dbSNP Id: rs543166733
• ExAC: 16:2164810 G / C
• gnomAD v2: 16-2164810-G-C
• gnomAD v3: 16-2114809-G-C
• gnomAD v4: 16-2114809-G-C
• MyVariant Identifiers: chr16:g.2164810G>C (hg19) ; chr16:g.2114809G>C (hg38)
• PubMed: PMID:22008521

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114809G>C , CM000678.2:g.2114809G>C	GRCh38
NC_000016.9:g.2164810G>C , CM000678.1:g.2164810G>C	GRCh37
NC_000016.8:g.2104811G>C	NCBI36
NG_008617.1:g.26090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2214C>G MANE Select	ENSP00000262304.4:p.Pro738=
ENST00000262304.8:c.2214C>G	ENSP00000262304.4:p.Pro738=
ENST00000423118.5:c.2214C>G	ENSP00000399501.1:p.Pro738=
ENST00000488185.2:c.472+2680C>G
ENST00000568591.5:c.1145C>G	ENSP00000457162.1:n.1145C>G
NM_000296.3:c.2214C>G	NP_000287.3:p.Pro738=
NM_001009944.2:c.2214C>G	NP_001009944.2:p.Pro738=
XM_011522525.1:c.2268C>G	XP_011520827.1:p.Pro756=
XM_011522526.1:c.2268C>G	XP_011520828.1:p.Pro756=
XM_011522527.1:c.2268C>G	XP_011520829.1:p.Pro756=
XM_011522528.1:c.2268C>G	XP_011520830.1:p.Pro756=
XM_011522529.1:c.2268C>G	XP_011520831.1:p.Pro756=
XM_011522530.1:c.2214C>G	XP_011520832.1:p.Pro738=
XM_011522531.1:c.2196C>G	XP_011520833.1:p.Pro732=
XM_011522532.1:c.2142C>G	XP_011520834.1:p.Pro714=
XM_011522533.1:c.2061C>G	XP_011520835.1:p.Pro687=
XM_011522534.1:c.2004C>G	XP_011520836.1:p.Pro668=
XM_011522535.1:c.90C>G	XP_011520837.1:p.Pro30=
XM_011522536.1:c.2268C>G	XP_011520838.1:p.Pro756=
XR_932867.1:n.2283C>G
XR_932868.1:n.2283C>G
XR_932869.1:n.2283C>G
XR_932870.1:n.2283C>G
XM_005255370.3:c.-836C>G	XP_005255427.1:n.-836C>G
XM_011522528.3:c.2268C>G	XP_011520830.1:p.Pro756=
XM_011522529.2:c.2268C>G	XP_011520831.1:p.Pro756=
XM_024450298.1:c.2214C>G	XP_024306066.1:p.Pro738=
XM_024450299.1:c.2142C>G	XP_024306067.1:p.Pro714=
XM_024450300.1:c.2004C>G	XP_024306068.1:p.Pro668=
XM_024450301.1:c.90C>G	XP_024306069.1:p.Pro30=
NM_000296.4:c.2214C>G	NP_000287.4:p.Pro738=
NM_001009944.3:c.2214C>G MANE Select	NP_001009944.3:p.Pro738=