Canonical Allele Identifier: CA7828661

Gene: PKD1

Linked Data

• dbSNP Id: rs763459795
• ExAC: 16:2140338 T / A
• gnomAD v2: 16-2140338-T-A
• gnomAD v3: 16-2090337-T-A
• gnomAD v4: 16-2090337-T-A
• MyVariant Identifiers: chr16:g.2140338T>A (hg19) ; chr16:g.2090337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090337T>A , CM000678.2:g.2090337T>A	GRCh38
NC_000016.9:g.2140338T>A , CM000678.1:g.2140338T>A	GRCh37
NC_000016.8:g.2080339T>A	NCBI36
NG_005895.1:g.46032T>A , LRG_487:g.46032T>A
NG_008617.1:g.52884A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12392A>T MANE Select	ENSP00000262304.4:p.Glu4131Val
ENST00000262304.8:c.12392A>T	ENSP00000262304.4:p.Glu4131Val
ENST00000423118.5:c.12389A>T	ENSP00000399501.1:p.Glu4130Val
ENST00000472577.1:n.420A>T
NM_000296.3:c.12389A>T	NP_000287.3:p.Glu4130Val
NM_001009944.2:c.12392A>T	NP_001009944.2:p.Glu4131Val
XM_005255370.2:c.9347A>T	XP_005255427.1:p.Glu3116Val
XM_011522525.1:c.12470A>T	XP_011520827.1:p.Glu4157Val
XM_011522526.1:c.12467A>T	XP_011520828.1:p.Glu4156Val
XM_011522527.1:c.12452A>T	XP_011520829.1:p.Glu4151Val
XM_011522528.1:c.12446A>T	XP_011520830.1:p.Glu4149Val
XM_011522529.1:c.12443A>T	XP_011520831.1:p.Glu4148Val
XM_011522530.1:c.12416A>T	XP_011520832.1:p.Glu4139Val
XM_011522531.1:c.12398A>T	XP_011520833.1:p.Glu4133Val
XM_011522532.1:c.12344A>T	XP_011520834.1:p.Glu4115Val
XM_011522533.1:c.12263A>T	XP_011520835.1:p.Glu4088Val
XM_011522534.1:c.12206A>T	XP_011520836.1:p.Glu4069Val
XM_011522535.1:c.10292A>T	XP_011520837.1:p.Glu3431Val
XM_011522537.1:c.9470A>T	XP_011520839.1:p.Glu3157Val
XR_932867.1:n.12310A>T
XM_005255370.3:c.9347A>T	XP_005255427.1:p.Glu3116Val
XM_011522528.3:c.12446A>T	XP_011520830.1:p.Glu4149Val
XM_011522529.2:c.12443A>T	XP_011520831.1:p.Glu4148Val
XM_011522537.2:c.9470A>T	XP_011520839.1:p.Glu3157Val
XM_024450298.1:c.12512A>T	XP_024306066.1:p.Glu4171Val
XM_024450299.1:c.12440A>T	XP_024306067.1:p.Glu4147Val
XM_024450300.1:c.12302A>T	XP_024306068.1:p.Glu4101Val
XM_024450301.1:c.10388A>T	XP_024306069.1:p.Glu3463Val
NM_000296.4:c.12389A>T	NP_000287.4:p.Glu4130Val
NM_001009944.3:c.12392A>T MANE Select	NP_001009944.3:p.Glu4131Val