Canonical Allele Identifier: CA394325240

Gene: PKD1

Linked Data

• dbSNP Id: rs776140570
• gnomAD v4: 16-2090388-C-A
• MyVariant Identifiers: chr16:g.2140389C>A (hg19) ; chr16:g.2090388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090388C>A , CM000678.2:g.2090388C>A	GRCh38
NC_000016.9:g.2140389C>A , CM000678.1:g.2140389C>A	GRCh37
NC_000016.8:g.2080390C>A	NCBI36
NG_005895.1:g.46083C>A , LRG_487:g.46083C>A
NG_008617.1:g.52833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12341G>T MANE Select	ENSP00000262304.4:p.Arg4114Leu
ENST00000262304.8:c.12341G>T	ENSP00000262304.4:p.Arg4114Leu
ENST00000423118.5:c.12338G>T	ENSP00000399501.1:p.Arg4113Leu
ENST00000472577.1:n.369G>T
NM_000296.3:c.12338G>T	NP_000287.3:p.Arg4113Leu
NM_001009944.2:c.12341G>T	NP_001009944.2:p.Arg4114Leu
XM_005255370.2:c.9296G>T	XP_005255427.1:p.Arg3099Leu
XM_011522525.1:c.12419G>T	XP_011520827.1:p.Arg4140Leu
XM_011522526.1:c.12416G>T	XP_011520828.1:p.Arg4139Leu
XM_011522527.1:c.12401G>T	XP_011520829.1:p.Arg4134Leu
XM_011522528.1:c.12395G>T	XP_011520830.1:p.Arg4132Leu
XM_011522529.1:c.12392G>T	XP_011520831.1:p.Arg4131Leu
XM_011522530.1:c.12365G>T	XP_011520832.1:p.Arg4122Leu
XM_011522531.1:c.12347G>T	XP_011520833.1:p.Arg4116Leu
XM_011522532.1:c.12293G>T	XP_011520834.1:p.Arg4098Leu
XM_011522533.1:c.12212G>T	XP_011520835.1:p.Arg4071Leu
XM_011522534.1:c.12155G>T	XP_011520836.1:p.Arg4052Leu
XM_011522535.1:c.10241G>T	XP_011520837.1:p.Arg3414Leu
XM_011522537.1:c.9419G>T	XP_011520839.1:p.Arg3140Leu
XR_932867.1:n.12259G>T
XM_005255370.3:c.9296G>T	XP_005255427.1:p.Arg3099Leu
XM_011522528.3:c.12395G>T	XP_011520830.1:p.Arg4132Leu
XM_011522529.2:c.12392G>T	XP_011520831.1:p.Arg4131Leu
XM_011522537.2:c.9419G>T	XP_011520839.1:p.Arg3140Leu
XM_024450298.1:c.12461G>T	XP_024306066.1:p.Arg4154Leu
XM_024450299.1:c.12389G>T	XP_024306067.1:p.Arg4130Leu
XM_024450300.1:c.12251G>T	XP_024306068.1:p.Arg4084Leu
XM_024450301.1:c.10337G>T	XP_024306069.1:p.Arg3446Leu
NM_000296.4:c.12338G>T	NP_000287.4:p.Arg4113Leu
NM_001009944.3:c.12341G>T MANE Select	NP_001009944.3:p.Arg4114Leu