Canonical Allele Identifier: CA394371225

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156659A>T (hg19) ; chr16:g.2106658A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106658A>T , CM000678.2:g.2106658A>T	GRCh38
NC_000016.9:g.2156659A>T , CM000678.1:g.2156659A>T	GRCh37
NC_000016.8:g.2096660A>T	NCBI36
NG_008617.1:g.34241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7229T>A MANE Select	ENSP00000262304.4:p.Phe2410Tyr
ENST00000262304.8:c.7229T>A	ENSP00000262304.4:p.Phe2410Tyr
ENST00000415938.7:n.474T>A
ENST00000423118.5:c.7229T>A	ENSP00000399501.1:p.Phe2410Tyr
ENST00000483024.1:c.397T>A
ENST00000483558.5:n.288T>A
ENST00000483731.5:n.954T>A
ENST00000486339.6:n.975T>A
ENST00000487932.5:c.1916T>A	ENSP00000457132.1:p.Phe639Tyr
ENST00000496574.6:n.1232T>A
ENST00000565639.6:n.937T>A
ENST00000568591.5:c.2390T>A	ENSP00000457162.1:n.2390T>A
ENST00000569983.5:n.585T>A
NM_000296.3:c.7229T>A	NP_000287.3:p.Phe2410Tyr
NM_001009944.2:c.7229T>A	NP_001009944.2:p.Phe2410Tyr
XM_005255370.2:c.4184T>A	XP_005255427.1:p.Phe1395Tyr
XM_011522525.1:c.7307T>A	XP_011520827.1:p.Phe2436Tyr
XM_011522526.1:c.7307T>A	XP_011520828.1:p.Phe2436Tyr
XM_011522527.1:c.7307T>A	XP_011520829.1:p.Phe2436Tyr
XM_011522528.1:c.7283T>A	XP_011520830.1:p.Phe2428Tyr
XM_011522529.1:c.7283T>A	XP_011520831.1:p.Phe2428Tyr
XM_011522530.1:c.7253T>A	XP_011520832.1:p.Phe2418Tyr
XM_011522531.1:c.7235T>A	XP_011520833.1:p.Phe2412Tyr
XM_011522532.1:c.7181T>A	XP_011520834.1:p.Phe2394Tyr
XM_011522533.1:c.7100T>A	XP_011520835.1:p.Phe2367Tyr
XM_011522534.1:c.7043T>A	XP_011520836.1:p.Phe2348Tyr
XM_011522535.1:c.5129T>A	XP_011520837.1:p.Phe1710Tyr
XM_011522536.1:c.7307T>A	XP_011520838.1:p.Phe2436Tyr
XM_011522537.1:c.4307T>A	XP_011520839.1:p.Phe1436Tyr
XR_932867.1:n.7322T>A
XR_932868.1:n.7322T>A
XR_932869.1:n.7322T>A
XR_932870.1:n.7322T>A
XM_005255370.3:c.4184T>A	XP_005255427.1:p.Phe1395Tyr
XM_011522528.3:c.7283T>A	XP_011520830.1:p.Phe2428Tyr
XM_011522529.2:c.7283T>A	XP_011520831.1:p.Phe2428Tyr
XM_011522537.2:c.4307T>A	XP_011520839.1:p.Phe1436Tyr
XM_024450298.1:c.7349T>A	XP_024306066.1:p.Phe2450Tyr
XM_024450299.1:c.7277T>A	XP_024306067.1:p.Phe2426Tyr
XM_024450300.1:c.7139T>A	XP_024306068.1:p.Phe2380Tyr
XM_024450301.1:c.5225T>A	XP_024306069.1:p.Phe1742Tyr
NM_000296.4:c.7229T>A	NP_000287.4:p.Phe2410Tyr
NM_001009944.3:c.7229T>A MANE Select	NP_001009944.3:p.Phe2410Tyr