Canonical Allele Identifier: CA276783285

Gene: PKD1

Linked Data

• ClinVar Variation Id: 447971
• ClinVar RCV Id: RCV000518467 ; RCV001254311 ; RCV001292370 ; RCV002470893
• dbSNP Id: rs2855341
• gnomAD v4: 16-2117043-C-T
• MyVariant Identifiers: chr16:g.2167044C>T (hg19) ; chr16:g.2117043C>T (hg38)
• PubMed: PMID:17582161

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117043C>T , CM000678.2:g.2117043C>T	GRCh38
NC_000016.9:g.2167044C>T , CM000678.1:g.2167044C>T	GRCh37
NC_000016.8:g.2107045C>T	NCBI36
NG_008617.1:g.23856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1396G>A MANE Select	ENSP00000262304.4:p.Val466Met
ENST00000262304.8:c.1396G>A	ENSP00000262304.4:p.Val466Met
ENST00000423118.5:c.1396G>A	ENSP00000399501.1:p.Val466Met
ENST00000488185.2:c.472+446G>A
ENST00000568591.5:c.354-27G>A	ENSP00000457162.1:n.354-27G>A
ENST00000570150.1:n.519-399G>A
NM_000296.3:c.1396G>A	NP_000287.3:p.Val466Met
NM_001009944.2:c.1396G>A	NP_001009944.2:p.Val466Met
XM_011522525.1:c.1450G>A	XP_011520827.1:p.Val484Met
XM_011522526.1:c.1450G>A	XP_011520828.1:p.Val484Met
XM_011522527.1:c.1450G>A	XP_011520829.1:p.Val484Met
XM_011522528.1:c.1450G>A	XP_011520830.1:p.Val484Met
XM_011522529.1:c.1450G>A	XP_011520831.1:p.Val484Met
XM_011522530.1:c.1396G>A	XP_011520832.1:p.Val466Met
XM_011522531.1:c.1378G>A	XP_011520833.1:p.Val460Met
XM_011522532.1:c.1324G>A	XP_011520834.1:p.Val442Met
XM_011522533.1:c.1243G>A	XP_011520835.1:p.Val415Met
XM_011522534.1:c.1186G>A	XP_011520836.1:p.Val396Met
XM_011522536.1:c.1450G>A	XP_011520838.1:p.Val484Met
XR_932867.1:n.1465G>A
XR_932868.1:n.1465G>A
XR_932869.1:n.1465G>A
XR_932870.1:n.1465G>A
XM_011522528.3:c.1450G>A	XP_011520830.1:p.Val484Met
XM_011522529.2:c.1450G>A	XP_011520831.1:p.Val484Met
XM_024450298.1:c.1396G>A	XP_024306066.1:p.Val466Met
XM_024450299.1:c.1324G>A	XP_024306067.1:p.Val442Met
XM_024450300.1:c.1186G>A	XP_024306068.1:p.Val396Met
NM_000296.4:c.1396G>A	NP_000287.4:p.Val466Met
NM_001009944.3:c.1396G>A MANE Select	NP_001009944.3:p.Val466Met