Canonical Allele Identifier: CA119381

Gene: PKD1

Linked Data

• ClinVar Variation Id: 8206
• ClinVar RCV Id: RCV000008689 ; RCV000712602 ; RCV000761309 ; RCV001292482
• dbSNP Id: rs199476100
• gnomAD v2: 16-2164490-A-G
• gnomAD v4: 16-2114489-A-G
• MyVariant Identifiers: chr16:g.2164490A>G (hg19) ; chr16:g.2114489A>G (hg38)
• PubMed: PMID:10364515

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114489A>G , CM000678.2:g.2114489A>G	GRCh38
NC_000016.9:g.2164490A>G , CM000678.1:g.2164490A>G	GRCh37
NC_000016.8:g.2104491A>G	NCBI36
NG_008617.1:g.26410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2534T>C MANE Select	ENSP00000262304.4:p.Leu845Ser
ENST00000262304.8:c.2534T>C	ENSP00000262304.4:p.Leu845Ser
ENST00000423118.5:c.2534T>C	ENSP00000399501.1:p.Leu845Ser
ENST00000488185.2:c.472+3000T>C
ENST00000568591.5:c.1465T>C	ENSP00000457162.1:n.1465T>C
NM_000296.3:c.2534T>C	NP_000287.3:p.Leu845Ser
NM_001009944.2:c.2534T>C	NP_001009944.2:p.Leu845Ser
XM_011522525.1:c.2588T>C	XP_011520827.1:p.Leu863Ser
XM_011522526.1:c.2588T>C	XP_011520828.1:p.Leu863Ser
XM_011522527.1:c.2588T>C	XP_011520829.1:p.Leu863Ser
XM_011522528.1:c.2588T>C	XP_011520830.1:p.Leu863Ser
XM_011522529.1:c.2588T>C	XP_011520831.1:p.Leu863Ser
XM_011522530.1:c.2534T>C	XP_011520832.1:p.Leu845Ser
XM_011522531.1:c.2516T>C	XP_011520833.1:p.Leu839Ser
XM_011522532.1:c.2462T>C	XP_011520834.1:p.Leu821Ser
XM_011522533.1:c.2381T>C	XP_011520835.1:p.Leu794Ser
XM_011522534.1:c.2324T>C	XP_011520836.1:p.Leu775Ser
XM_011522535.1:c.410T>C	XP_011520837.1:p.Leu137Ser
XM_011522536.1:c.2588T>C	XP_011520838.1:p.Leu863Ser
XR_932867.1:n.2603T>C
XR_932868.1:n.2603T>C
XR_932869.1:n.2603T>C
XR_932870.1:n.2603T>C
XM_005255370.3:c.-516T>C	XP_005255427.1:n.-516T>C
XM_011522528.3:c.2588T>C	XP_011520830.1:p.Leu863Ser
XM_011522529.2:c.2588T>C	XP_011520831.1:p.Leu863Ser
XM_024450298.1:c.2534T>C	XP_024306066.1:p.Leu845Ser
XM_024450299.1:c.2462T>C	XP_024306067.1:p.Leu821Ser
XM_024450300.1:c.2324T>C	XP_024306068.1:p.Leu775Ser
XM_024450301.1:c.410T>C	XP_024306069.1:p.Leu137Ser
NM_000296.4:c.2534T>C	NP_000287.4:p.Leu845Ser
NM_001009944.3:c.2534T>C MANE Select	NP_001009944.3:p.Leu845Ser