Canonical Allele Identifier: CA7833485

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1312661
• ClinVar RCV Id: RCV001763667 ; RCV002489794 ; RCV003128429 ; RCV003163880
• dbSNP Id: rs776110243
• ExAC: 16:2166837 C / T
• gnomAD v2: 16-2166837-C-T
• gnomAD v3: 16-2116836-C-T
• gnomAD v4: 16-2116836-C-T
• MyVariant Identifiers: chr16:g.2166837C>T (hg19) ; chr16:g.2116836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2116836C>T , CM000678.2:g.2116836C>T	GRCh38
NC_000016.9:g.2166837C>T , CM000678.1:g.2166837C>T	GRCh37
NC_000016.8:g.2106838C>T	NCBI36
NG_008617.1:g.24063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1603G>A MANE Select	ENSP00000262304.4:p.Gly535Arg
ENST00000262304.8:c.1603G>A	ENSP00000262304.4:p.Gly535Arg
ENST00000423118.5:c.1603G>A	ENSP00000399501.1:p.Gly535Arg
ENST00000488185.2:c.472+653G>A
ENST00000568591.5:c.534G>A	ENSP00000457162.1:p.Pro178=
ENST00000570150.1:n.519-192G>A
NM_000296.3:c.1603G>A	NP_000287.3:p.Gly535Arg
NM_001009944.2:c.1603G>A	NP_001009944.2:p.Gly535Arg
XM_011522525.1:c.1657G>A	XP_011520827.1:p.Gly553Arg
XM_011522526.1:c.1657G>A	XP_011520828.1:p.Gly553Arg
XM_011522527.1:c.1657G>A	XP_011520829.1:p.Gly553Arg
XM_011522528.1:c.1657G>A	XP_011520830.1:p.Gly553Arg
XM_011522529.1:c.1657G>A	XP_011520831.1:p.Gly553Arg
XM_011522530.1:c.1603G>A	XP_011520832.1:p.Gly535Arg
XM_011522531.1:c.1585G>A	XP_011520833.1:p.Gly529Arg
XM_011522532.1:c.1531G>A	XP_011520834.1:p.Gly511Arg
XM_011522533.1:c.1450G>A	XP_011520835.1:p.Gly484Arg
XM_011522534.1:c.1393G>A	XP_011520836.1:p.Gly465Arg
XM_011522536.1:c.1657G>A	XP_011520838.1:p.Gly553Arg
XR_932867.1:n.1672G>A
XR_932868.1:n.1672G>A
XR_932869.1:n.1672G>A
XR_932870.1:n.1672G>A
XM_011522528.3:c.1657G>A	XP_011520830.1:p.Gly553Arg
XM_011522529.2:c.1657G>A	XP_011520831.1:p.Gly553Arg
XM_024450298.1:c.1603G>A	XP_024306066.1:p.Gly535Arg
XM_024450299.1:c.1531G>A	XP_024306067.1:p.Gly511Arg
XM_024450300.1:c.1393G>A	XP_024306068.1:p.Gly465Arg
NM_000296.4:c.1603G>A	NP_000287.4:p.Gly535Arg
NM_001009944.3:c.1603G>A MANE Select	NP_001009944.3:p.Gly535Arg