Canonical Allele Identifier: CA394369964

Gene: PKD1

Linked Data

• dbSNP Id: rs2092341776
• gnomAD v4: 16-2106515-C-T
• MyVariant Identifiers: chr16:g.2156516C>T (hg19) ; chr16:g.2106515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106515C>T , CM000678.2:g.2106515C>T	GRCh38
NC_000016.9:g.2156516C>T , CM000678.1:g.2156516C>T	GRCh37
NC_000016.8:g.2096517C>T	NCBI36
NG_008617.1:g.34384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7372G>A MANE Select	ENSP00000262304.4:p.Glu2458Lys
ENST00000262304.8:c.7372G>A	ENSP00000262304.4:p.Glu2458Lys
ENST00000415938.7:n.617G>A
ENST00000423118.5:c.7372G>A	ENSP00000399501.1:p.Glu2458Lys
ENST00000483558.5:n.431G>A
ENST00000483731.5:n.1097G>A
ENST00000486339.6:n.1118G>A
ENST00000487932.5:c.2059G>A	ENSP00000457132.1:p.Glu687Lys
ENST00000496574.6:n.1375G>A
ENST00000565639.6:n.1080G>A
ENST00000568591.5:c.2533G>A	ENSP00000457162.1:n.2533G>A
NM_000296.3:c.7372G>A	NP_000287.3:p.Glu2458Lys
NM_001009944.2:c.7372G>A	NP_001009944.2:p.Glu2458Lys
XM_005255370.2:c.4327G>A	XP_005255427.1:p.Glu1443Lys
XM_011522525.1:c.7450G>A	XP_011520827.1:p.Glu2484Lys
XM_011522526.1:c.7450G>A	XP_011520828.1:p.Glu2484Lys
XM_011522527.1:c.7450G>A	XP_011520829.1:p.Glu2484Lys
XM_011522528.1:c.7426G>A	XP_011520830.1:p.Glu2476Lys
XM_011522529.1:c.7426G>A	XP_011520831.1:p.Glu2476Lys
XM_011522530.1:c.7396G>A	XP_011520832.1:p.Glu2466Lys
XM_011522531.1:c.7378G>A	XP_011520833.1:p.Glu2460Lys
XM_011522532.1:c.7324G>A	XP_011520834.1:p.Glu2442Lys
XM_011522533.1:c.7243G>A	XP_011520835.1:p.Glu2415Lys
XM_011522534.1:c.7186G>A	XP_011520836.1:p.Glu2396Lys
XM_011522535.1:c.5272G>A	XP_011520837.1:p.Glu1758Lys
XM_011522536.1:c.7450G>A	XP_011520838.1:p.Glu2484Lys
XM_011522537.1:c.4450G>A	XP_011520839.1:p.Glu1484Lys
XR_932867.1:n.7465G>A
XR_932868.1:n.7465G>A
XR_932869.1:n.7465G>A
XR_932870.1:n.7465G>A
XM_005255370.3:c.4327G>A	XP_005255427.1:p.Glu1443Lys
XM_011522528.3:c.7426G>A	XP_011520830.1:p.Glu2476Lys
XM_011522529.2:c.7426G>A	XP_011520831.1:p.Glu2476Lys
XM_011522537.2:c.4450G>A	XP_011520839.1:p.Glu1484Lys
XM_024450298.1:c.7492G>A	XP_024306066.1:p.Glu2498Lys
XM_024450299.1:c.7420G>A	XP_024306067.1:p.Glu2474Lys
XM_024450300.1:c.7282G>A	XP_024306068.1:p.Glu2428Lys
XM_024450301.1:c.5368G>A	XP_024306069.1:p.Glu1790Lys
NM_000296.4:c.7372G>A	NP_000287.4:p.Glu2458Lys
NM_001009944.3:c.7372G>A MANE Select	NP_001009944.3:p.Glu2458Lys