Canonical Allele Identifier: CA276779747

Gene: PKD1

Linked Data

• dbSNP Id: rs922698945
• gnomAD v3: 16-2106657-G-A
• gnomAD v4: 16-2106657-G-A
• MyVariant Identifiers: chr16:g.2156658G>A (hg19) ; chr16:g.2106657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106657G>A , CM000678.2:g.2106657G>A	GRCh38
NC_000016.9:g.2156658G>A , CM000678.1:g.2156658G>A	GRCh37
NC_000016.8:g.2096659G>A	NCBI36
NG_008617.1:g.34242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7230C>T MANE Select	ENSP00000262304.4:p.Phe2410=
ENST00000262304.8:c.7230C>T	ENSP00000262304.4:p.Phe2410=
ENST00000415938.7:n.475C>T
ENST00000423118.5:c.7230C>T	ENSP00000399501.1:p.Phe2410=
ENST00000483024.1:c.398C>T
ENST00000483558.5:n.289C>T
ENST00000483731.5:n.955C>T
ENST00000486339.6:n.976C>T
ENST00000487932.5:c.1917C>T	ENSP00000457132.1:p.Phe639=
ENST00000496574.6:n.1233C>T
ENST00000565639.6:n.938C>T
ENST00000568591.5:c.2391C>T	ENSP00000457162.1:n.2391C>T
ENST00000569983.5:n.586C>T
NM_000296.3:c.7230C>T	NP_000287.3:p.Phe2410=
NM_001009944.2:c.7230C>T	NP_001009944.2:p.Phe2410=
XM_005255370.2:c.4185C>T	XP_005255427.1:p.Phe1395=
XM_011522525.1:c.7308C>T	XP_011520827.1:p.Phe2436=
XM_011522526.1:c.7308C>T	XP_011520828.1:p.Phe2436=
XM_011522527.1:c.7308C>T	XP_011520829.1:p.Phe2436=
XM_011522528.1:c.7284C>T	XP_011520830.1:p.Phe2428=
XM_011522529.1:c.7284C>T	XP_011520831.1:p.Phe2428=
XM_011522530.1:c.7254C>T	XP_011520832.1:p.Phe2418=
XM_011522531.1:c.7236C>T	XP_011520833.1:p.Phe2412=
XM_011522532.1:c.7182C>T	XP_011520834.1:p.Phe2394=
XM_011522533.1:c.7101C>T	XP_011520835.1:p.Phe2367=
XM_011522534.1:c.7044C>T	XP_011520836.1:p.Phe2348=
XM_011522535.1:c.5130C>T	XP_011520837.1:p.Phe1710=
XM_011522536.1:c.7308C>T	XP_011520838.1:p.Phe2436=
XM_011522537.1:c.4308C>T	XP_011520839.1:p.Phe1436=
XR_932867.1:n.7323C>T
XR_932868.1:n.7323C>T
XR_932869.1:n.7323C>T
XR_932870.1:n.7323C>T
XM_005255370.3:c.4185C>T	XP_005255427.1:p.Phe1395=
XM_011522528.3:c.7284C>T	XP_011520830.1:p.Phe2428=
XM_011522529.2:c.7284C>T	XP_011520831.1:p.Phe2428=
XM_011522537.2:c.4308C>T	XP_011520839.1:p.Phe1436=
XM_024450298.1:c.7350C>T	XP_024306066.1:p.Phe2450=
XM_024450299.1:c.7278C>T	XP_024306067.1:p.Phe2426=
XM_024450300.1:c.7140C>T	XP_024306068.1:p.Phe2380=
XM_024450301.1:c.5226C>T	XP_024306069.1:p.Phe1742=
NM_000296.4:c.7230C>T	NP_000287.4:p.Phe2410=
NM_001009944.3:c.7230C>T MANE Select	NP_001009944.3:p.Phe2410=