Canonical Allele Identifier: CA394382716

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161536T>A (hg19) ; chr16:g.2111535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111535T>A , CM000678.2:g.2111535T>A	GRCh38
NC_000016.9:g.2161536T>A , CM000678.1:g.2161536T>A	GRCh37
NC_000016.8:g.2101537T>A	NCBI36
NG_008617.1:g.29364A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3632A>T MANE Select	ENSP00000262304.4:p.Glu1211Val
ENST00000262304.8:c.3632A>T	ENSP00000262304.4:p.Glu1211Val
ENST00000415938.7:n.310+805A>T
ENST00000423118.5:c.3632A>T	ENSP00000399501.1:p.Glu1211Val
ENST00000468674.5:n.430+805A>T
ENST00000469241.2:n.582A>T
ENST00000483024.1:c.233+281A>T
ENST00000483731.5:n.790+805A>T
ENST00000488185.2:c.473-3177A>T
ENST00000565639.6:n.773+805A>T
ENST00000568591.5:c.2226+805A>T	ENSP00000457162.1:n.2226+805A>T
ENST00000569983.5:n.421+805A>T
NM_000296.3:c.3632A>T	NP_000287.3:p.Glu1211Val
NM_001009944.2:c.3632A>T	NP_001009944.2:p.Glu1211Val
XM_005255370.2:c.587A>T	XP_005255427.1:p.Glu196Val
XM_011522525.1:c.3710A>T	XP_011520827.1:p.Glu1237Val
XM_011522526.1:c.3710A>T	XP_011520828.1:p.Glu1237Val
XM_011522527.1:c.3710A>T	XP_011520829.1:p.Glu1237Val
XM_011522528.1:c.3686A>T	XP_011520830.1:p.Glu1229Val
XM_011522529.1:c.3686A>T	XP_011520831.1:p.Glu1229Val
XM_011522530.1:c.3656A>T	XP_011520832.1:p.Glu1219Val
XM_011522531.1:c.3638A>T	XP_011520833.1:p.Glu1213Val
XM_011522532.1:c.3584A>T	XP_011520834.1:p.Glu1195Val
XM_011522533.1:c.3503A>T	XP_011520835.1:p.Glu1168Val
XM_011522534.1:c.3446A>T	XP_011520836.1:p.Glu1149Val
XM_011522535.1:c.1532A>T	XP_011520837.1:p.Glu511Val
XM_011522536.1:c.3710A>T	XP_011520838.1:p.Glu1237Val
XM_011522537.1:c.710A>T	XP_011520839.1:p.Glu237Val
XR_932867.1:n.3725A>T
XR_932868.1:n.3725A>T
XR_932869.1:n.3725A>T
XR_932870.1:n.3725A>T
XM_005255370.3:c.587A>T	XP_005255427.1:p.Glu196Val
XM_011522528.3:c.3686A>T	XP_011520830.1:p.Glu1229Val
XM_011522529.2:c.3686A>T	XP_011520831.1:p.Glu1229Val
XM_011522537.2:c.710A>T	XP_011520839.1:p.Glu237Val
XM_024450298.1:c.3752A>T	XP_024306066.1:p.Glu1251Val
XM_024450299.1:c.3680A>T	XP_024306067.1:p.Glu1227Val
XM_024450300.1:c.3542A>T	XP_024306068.1:p.Glu1181Val
XM_024450301.1:c.1628A>T	XP_024306069.1:p.Glu543Val
NM_000296.4:c.3632A>T	NP_000287.4:p.Glu1211Val
NM_001009944.3:c.3632A>T MANE Select	NP_001009944.3:p.Glu1211Val