Canonical Allele Identifier: CA7831177

Gene: PKD1

Linked Data

• dbSNP Id: rs763493643
• ExAC: 16:2156562 C / T
• gnomAD v2: 16-2156562-C-T
• gnomAD v3: 16-2106561-C-T
• gnomAD v4: 16-2106561-C-T
• MyVariant Identifiers: chr16:g.2156562C>T (hg19) ; chr16:g.2106561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106561C>T , CM000678.2:g.2106561C>T	GRCh38
NC_000016.9:g.2156562C>T , CM000678.1:g.2156562C>T	GRCh37
NC_000016.8:g.2096563C>T	NCBI36
NG_008617.1:g.34338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7326G>A MANE Select	ENSP00000262304.4:p.Glu2442=
ENST00000262304.8:c.7326G>A	ENSP00000262304.4:p.Glu2442=
ENST00000415938.7:n.571G>A
ENST00000423118.5:c.7326G>A	ENSP00000399501.1:p.Glu2442=
ENST00000483558.5:n.385G>A
ENST00000483731.5:n.1051G>A
ENST00000486339.6:n.1072G>A
ENST00000487932.5:c.2013G>A	ENSP00000457132.1:p.Glu671=
ENST00000496574.6:n.1329G>A
ENST00000565639.6:n.1034G>A
ENST00000568591.5:c.2487G>A	ENSP00000457162.1:n.2487G>A
ENST00000569983.5:n.682G>A
NM_000296.3:c.7326G>A	NP_000287.3:p.Glu2442=
NM_001009944.2:c.7326G>A	NP_001009944.2:p.Glu2442=
XM_005255370.2:c.4281G>A	XP_005255427.1:p.Glu1427=
XM_011522525.1:c.7404G>A	XP_011520827.1:p.Glu2468=
XM_011522526.1:c.7404G>A	XP_011520828.1:p.Glu2468=
XM_011522527.1:c.7404G>A	XP_011520829.1:p.Glu2468=
XM_011522528.1:c.7380G>A	XP_011520830.1:p.Glu2460=
XM_011522529.1:c.7380G>A	XP_011520831.1:p.Glu2460=
XM_011522530.1:c.7350G>A	XP_011520832.1:p.Glu2450=
XM_011522531.1:c.7332G>A	XP_011520833.1:p.Glu2444=
XM_011522532.1:c.7278G>A	XP_011520834.1:p.Glu2426=
XM_011522533.1:c.7197G>A	XP_011520835.1:p.Glu2399=
XM_011522534.1:c.7140G>A	XP_011520836.1:p.Glu2380=
XM_011522535.1:c.5226G>A	XP_011520837.1:p.Glu1742=
XM_011522536.1:c.7404G>A	XP_011520838.1:p.Glu2468=
XM_011522537.1:c.4404G>A	XP_011520839.1:p.Glu1468=
XR_932867.1:n.7419G>A
XR_932868.1:n.7419G>A
XR_932869.1:n.7419G>A
XR_932870.1:n.7419G>A
XM_005255370.3:c.4281G>A	XP_005255427.1:p.Glu1427=
XM_011522528.3:c.7380G>A	XP_011520830.1:p.Glu2460=
XM_011522529.2:c.7380G>A	XP_011520831.1:p.Glu2460=
XM_011522537.2:c.4404G>A	XP_011520839.1:p.Glu1468=
XM_024450298.1:c.7446G>A	XP_024306066.1:p.Glu2482=
XM_024450299.1:c.7374G>A	XP_024306067.1:p.Glu2458=
XM_024450300.1:c.7236G>A	XP_024306068.1:p.Glu2412=
XM_024450301.1:c.5322G>A	XP_024306069.1:p.Glu1774=
NM_000296.4:c.7326G>A	NP_000287.4:p.Glu2442=
NM_001009944.3:c.7326G>A MANE Select	NP_001009944.3:p.Glu2442=