Canonical Allele Identifier: CA394387559

Gene: PKD1

Linked Data

• ClinVar Variation Id: 635532
• ClinVar RCV Id: RCV000787002
• dbSNP Id: rs1596576007
• MyVariant Identifiers: chr16:g.2164484A>G (hg19) ; chr16:g.2114483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114483A>G , CM000678.2:g.2114483A>G	GRCh38
NC_000016.9:g.2164484A>G , CM000678.1:g.2164484A>G	GRCh37
NC_000016.8:g.2104485A>G	NCBI36
NG_008617.1:g.26416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2540T>C MANE Select	ENSP00000262304.4:p.Leu847Pro
ENST00000262304.8:c.2540T>C	ENSP00000262304.4:p.Leu847Pro
ENST00000423118.5:c.2540T>C	ENSP00000399501.1:p.Leu847Pro
ENST00000488185.2:c.472+3006T>C
ENST00000568591.5:c.1471T>C	ENSP00000457162.1:n.1471T>C
NM_000296.3:c.2540T>C	NP_000287.3:p.Leu847Pro
NM_001009944.2:c.2540T>C	NP_001009944.2:p.Leu847Pro
XM_011522525.1:c.2594T>C	XP_011520827.1:p.Leu865Pro
XM_011522526.1:c.2594T>C	XP_011520828.1:p.Leu865Pro
XM_011522527.1:c.2594T>C	XP_011520829.1:p.Leu865Pro
XM_011522528.1:c.2594T>C	XP_011520830.1:p.Leu865Pro
XM_011522529.1:c.2594T>C	XP_011520831.1:p.Leu865Pro
XM_011522530.1:c.2540T>C	XP_011520832.1:p.Leu847Pro
XM_011522531.1:c.2522T>C	XP_011520833.1:p.Leu841Pro
XM_011522532.1:c.2468T>C	XP_011520834.1:p.Leu823Pro
XM_011522533.1:c.2387T>C	XP_011520835.1:p.Leu796Pro
XM_011522534.1:c.2330T>C	XP_011520836.1:p.Leu777Pro
XM_011522535.1:c.416T>C	XP_011520837.1:p.Leu139Pro
XM_011522536.1:c.2594T>C	XP_011520838.1:p.Leu865Pro
XR_932867.1:n.2609T>C
XR_932868.1:n.2609T>C
XR_932869.1:n.2609T>C
XR_932870.1:n.2609T>C
XM_005255370.3:c.-510T>C	XP_005255427.1:n.-510T>C
XM_011522528.3:c.2594T>C	XP_011520830.1:p.Leu865Pro
XM_011522529.2:c.2594T>C	XP_011520831.1:p.Leu865Pro
XM_024450298.1:c.2540T>C	XP_024306066.1:p.Leu847Pro
XM_024450299.1:c.2468T>C	XP_024306067.1:p.Leu823Pro
XM_024450300.1:c.2330T>C	XP_024306068.1:p.Leu777Pro
XM_024450301.1:c.416T>C	XP_024306069.1:p.Leu139Pro
NM_000296.4:c.2540T>C	NP_000287.4:p.Leu847Pro
NM_001009944.3:c.2540T>C MANE Select	NP_001009944.3:p.Leu847Pro