Canonical Allele Identifier: CA493046790

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1050125
• ClinVar RCV Id: RCV001357061
• dbSNP Id: rs1177672366
• gnomAD v2: 16-2156604-G-A
• gnomAD v4: 16-2106603-G-A
• MyVariant Identifiers: chr16:g.2156604G>A (hg19) ; chr16:g.2106603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106603G>A , CM000678.2:g.2106603G>A	GRCh38
NC_000016.9:g.2156604G>A , CM000678.1:g.2156604G>A	GRCh37
NC_000016.8:g.2096605G>A	NCBI36
NG_008617.1:g.34296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.7284C>T MANE Select	ENSP00000262304.4:p.Gly2428=
ENST00000262304.8:c.7284C>T	ENSP00000262304.4:p.Gly2428=
ENST00000415938.7:n.529C>T
ENST00000423118.5:c.7284C>T	ENSP00000399501.1:p.Gly2428=
ENST00000483024.1:c.452C>T
ENST00000483558.5:n.343C>T
ENST00000483731.5:n.1009C>T
ENST00000486339.6:n.1030C>T
ENST00000487932.5:c.1971C>T	ENSP00000457132.1:p.Gly657=
ENST00000496574.6:n.1287C>T
ENST00000565639.6:n.992C>T
ENST00000568591.5:c.2445C>T	ENSP00000457162.1:n.2445C>T
ENST00000569983.5:n.640C>T
NM_000296.3:c.7284C>T	NP_000287.3:p.Gly2428=
NM_001009944.2:c.7284C>T	NP_001009944.2:p.Gly2428=
XM_005255370.2:c.4239C>T	XP_005255427.1:p.Gly1413=
XM_011522525.1:c.7362C>T	XP_011520827.1:p.Gly2454=
XM_011522526.1:c.7362C>T	XP_011520828.1:p.Gly2454=
XM_011522527.1:c.7362C>T	XP_011520829.1:p.Gly2454=
XM_011522528.1:c.7338C>T	XP_011520830.1:p.Gly2446=
XM_011522529.1:c.7338C>T	XP_011520831.1:p.Gly2446=
XM_011522530.1:c.7308C>T	XP_011520832.1:p.Gly2436=
XM_011522531.1:c.7290C>T	XP_011520833.1:p.Gly2430=
XM_011522532.1:c.7236C>T	XP_011520834.1:p.Gly2412=
XM_011522533.1:c.7155C>T	XP_011520835.1:p.Gly2385=
XM_011522534.1:c.7098C>T	XP_011520836.1:p.Gly2366=
XM_011522535.1:c.5184C>T	XP_011520837.1:p.Gly1728=
XM_011522536.1:c.7362C>T	XP_011520838.1:p.Gly2454=
XM_011522537.1:c.4362C>T	XP_011520839.1:p.Gly1454=
XR_932867.1:n.7377C>T
XR_932868.1:n.7377C>T
XR_932869.1:n.7377C>T
XR_932870.1:n.7377C>T
XM_005255370.3:c.4239C>T	XP_005255427.1:p.Gly1413=
XM_011522528.3:c.7338C>T	XP_011520830.1:p.Gly2446=
XM_011522529.2:c.7338C>T	XP_011520831.1:p.Gly2446=
XM_011522537.2:c.4362C>T	XP_011520839.1:p.Gly1454=
XM_024450298.1:c.7404C>T	XP_024306066.1:p.Gly2468=
XM_024450299.1:c.7332C>T	XP_024306067.1:p.Gly2444=
XM_024450300.1:c.7194C>T	XP_024306068.1:p.Gly2398=
XM_024450301.1:c.5280C>T	XP_024306069.1:p.Gly1760=
NM_000296.4:c.7284C>T	NP_000287.4:p.Gly2428=
NM_001009944.3:c.7284C>T MANE Select	NP_001009944.3:p.Gly2428=