Canonical Allele Identifier: CA394373464

Gene: PKD1

Linked Data

• ClinVar Variation Id: 433972
• ClinVar RCV Id: RCV000500237 ; RCV000508539 ; RCV000681684 ; RCV001526541 ; RCV002289687
• dbSNP Id: rs1555454411
• gnomAD v4: 16-2108680-G-A
• MyVariant Identifiers: chr16:g.2158681G>A (hg19) ; chr16:g.2108680G>A (hg38)
• PubMed: PMID:11115377 ; PMID:22508176

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108680G>A , CM000678.2:g.2108680G>A	GRCh38
NC_000016.9:g.2158681G>A , CM000678.1:g.2158681G>A	GRCh37
NC_000016.8:g.2098682G>A	NCBI36
NG_008617.1:g.32219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.6487C>T MANE Select	ENSP00000262304.4:p.Arg2163Ter
ENST00000262304.8:c.6487C>T	ENSP00000262304.4:p.Arg2163Ter
ENST00000415938.7:n.311-1732C>T
ENST00000423118.5:c.6487C>T	ENSP00000399501.1:p.Arg2163Ter
ENST00000483024.1:c.234-1732C>T
ENST00000483731.5:n.791-1732C>T
ENST00000487932.5:c.1174C>T	ENSP00000457132.1:p.Arg392Ter
ENST00000488185.2:c.473-322C>T
ENST00000565639.6:n.774-1732C>T
ENST00000568591.5:c.2227-1732C>T	ENSP00000457162.1:n.2227-1732C>T
ENST00000569983.5:n.422-1732C>T
NM_000296.3:c.6487C>T	NP_000287.3:p.Arg2163Ter
NM_001009944.2:c.6487C>T	NP_001009944.2:p.Arg2163Ter
XM_005255370.2:c.3442C>T	XP_005255427.1:p.Arg1148Ter
XM_011522525.1:c.6565C>T	XP_011520827.1:p.Arg2189Ter
XM_011522526.1:c.6565C>T	XP_011520828.1:p.Arg2189Ter
XM_011522527.1:c.6565C>T	XP_011520829.1:p.Arg2189Ter
XM_011522528.1:c.6541C>T	XP_011520830.1:p.Arg2181Ter
XM_011522529.1:c.6541C>T	XP_011520831.1:p.Arg2181Ter
XM_011522530.1:c.6511C>T	XP_011520832.1:p.Arg2171Ter
XM_011522531.1:c.6493C>T	XP_011520833.1:p.Arg2165Ter
XM_011522532.1:c.6439C>T	XP_011520834.1:p.Arg2147Ter
XM_011522533.1:c.6358C>T	XP_011520835.1:p.Arg2120Ter
XM_011522534.1:c.6301C>T	XP_011520836.1:p.Arg2101Ter
XM_011522535.1:c.4387C>T	XP_011520837.1:p.Arg1463Ter
XM_011522536.1:c.6565C>T	XP_011520838.1:p.Arg2189Ter
XM_011522537.1:c.3565C>T	XP_011520839.1:p.Arg1189Ter
XR_932867.1:n.6580C>T
XR_932868.1:n.6580C>T
XR_932869.1:n.6580C>T
XR_932870.1:n.6580C>T
XM_005255370.3:c.3442C>T	XP_005255427.1:p.Arg1148Ter
XM_011522528.3:c.6541C>T	XP_011520830.1:p.Arg2181Ter
XM_011522529.2:c.6541C>T	XP_011520831.1:p.Arg2181Ter
XM_011522537.2:c.3565C>T	XP_011520839.1:p.Arg1189Ter
XM_024450298.1:c.6607C>T	XP_024306066.1:p.Arg2203Ter
XM_024450299.1:c.6535C>T	XP_024306067.1:p.Arg2179Ter
XM_024450300.1:c.6397C>T	XP_024306068.1:p.Arg2133Ter
XM_024450301.1:c.4483C>T	XP_024306069.1:p.Arg1495Ter
NM_000296.4:c.6487C>T	NP_000287.4:p.Arg2163Ter
NM_001009944.3:c.6487C>T MANE Select	NP_001009944.3:p.Arg2163Ter