Canonical Allele Identifier: CA394325592

Gene: PKD1

Linked Data

• dbSNP Id: rs1306483854
• gnomAD v2: 16-2140425-C-T
• gnomAD v3: 16-2090424-C-T
• gnomAD v4: 16-2090424-C-T
• MyVariant Identifiers: chr16:g.2140425C>T (hg19) ; chr16:g.2090424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090424C>T , CM000678.2:g.2090424C>T	GRCh38
NC_000016.9:g.2140425C>T , CM000678.1:g.2140425C>T	GRCh37
NC_000016.8:g.2080426C>T	NCBI36
NG_005895.1:g.46119C>T , LRG_487:g.46119C>T
NG_008617.1:g.52797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12305G>A MANE Select	ENSP00000262304.4:p.Gly4102Glu
ENST00000262304.8:c.12305G>A	ENSP00000262304.4:p.Gly4102Glu
ENST00000423118.5:c.12302G>A	ENSP00000399501.1:p.Gly4101Glu
ENST00000472577.1:n.333G>A
NM_000296.3:c.12302G>A	NP_000287.3:p.Gly4101Glu
NM_001009944.2:c.12305G>A	NP_001009944.2:p.Gly4102Glu
XM_005255370.2:c.9260G>A	XP_005255427.1:p.Gly3087Glu
XM_011522525.1:c.12383G>A	XP_011520827.1:p.Gly4128Glu
XM_011522526.1:c.12380G>A	XP_011520828.1:p.Gly4127Glu
XM_011522527.1:c.12365G>A	XP_011520829.1:p.Gly4122Glu
XM_011522528.1:c.12359G>A	XP_011520830.1:p.Gly4120Glu
XM_011522529.1:c.12356G>A	XP_011520831.1:p.Gly4119Glu
XM_011522530.1:c.12329G>A	XP_011520832.1:p.Gly4110Glu
XM_011522531.1:c.12311G>A	XP_011520833.1:p.Gly4104Glu
XM_011522532.1:c.12257G>A	XP_011520834.1:p.Gly4086Glu
XM_011522533.1:c.12176G>A	XP_011520835.1:p.Gly4059Glu
XM_011522534.1:c.12119G>A	XP_011520836.1:p.Gly4040Glu
XM_011522535.1:c.10205G>A	XP_011520837.1:p.Gly3402Glu
XM_011522537.1:c.9383G>A	XP_011520839.1:p.Gly3128Glu
XR_932867.1:n.12223G>A
XM_005255370.3:c.9260G>A	XP_005255427.1:p.Gly3087Glu
XM_011522528.3:c.12359G>A	XP_011520830.1:p.Gly4120Glu
XM_011522529.2:c.12356G>A	XP_011520831.1:p.Gly4119Glu
XM_011522537.2:c.9383G>A	XP_011520839.1:p.Gly3128Glu
XM_024450298.1:c.12425G>A	XP_024306066.1:p.Gly4142Glu
XM_024450299.1:c.12353G>A	XP_024306067.1:p.Gly4118Glu
XM_024450300.1:c.12215G>A	XP_024306068.1:p.Gly4072Glu
XM_024450301.1:c.10301G>A	XP_024306069.1:p.Gly3434Glu
NM_000296.4:c.12302G>A	NP_000287.4:p.Gly4101Glu
NM_001009944.3:c.12305G>A MANE Select	NP_001009944.3:p.Gly4102Glu