Canonical Allele Identifier: CA394370426

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156606C>A (hg19) ; chr16:g.2106605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106605C>A , CM000678.2:g.2106605C>A	GRCh38
NC_000016.9:g.2156606C>A , CM000678.1:g.2156606C>A	GRCh37
NC_000016.8:g.2096607C>A	NCBI36
NG_008617.1:g.34294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7282G>T MANE Select	ENSP00000262304.4:p.Gly2428Cys
ENST00000262304.8:c.7282G>T	ENSP00000262304.4:p.Gly2428Cys
ENST00000415938.7:n.527G>T
ENST00000423118.5:c.7282G>T	ENSP00000399501.1:p.Gly2428Cys
ENST00000483024.1:c.450G>T
ENST00000483558.5:n.341G>T
ENST00000483731.5:n.1007G>T
ENST00000486339.6:n.1028G>T
ENST00000487932.5:c.1969G>T	ENSP00000457132.1:p.Gly657Cys
ENST00000496574.6:n.1285G>T
ENST00000565639.6:n.990G>T
ENST00000568591.5:c.2443G>T	ENSP00000457162.1:n.2443G>T
ENST00000569983.5:n.638G>T
NM_000296.3:c.7282G>T	NP_000287.3:p.Gly2428Cys
NM_001009944.2:c.7282G>T	NP_001009944.2:p.Gly2428Cys
XM_005255370.2:c.4237G>T	XP_005255427.1:p.Gly1413Cys
XM_011522525.1:c.7360G>T	XP_011520827.1:p.Gly2454Cys
XM_011522526.1:c.7360G>T	XP_011520828.1:p.Gly2454Cys
XM_011522527.1:c.7360G>T	XP_011520829.1:p.Gly2454Cys
XM_011522528.1:c.7336G>T	XP_011520830.1:p.Gly2446Cys
XM_011522529.1:c.7336G>T	XP_011520831.1:p.Gly2446Cys
XM_011522530.1:c.7306G>T	XP_011520832.1:p.Gly2436Cys
XM_011522531.1:c.7288G>T	XP_011520833.1:p.Gly2430Cys
XM_011522532.1:c.7234G>T	XP_011520834.1:p.Gly2412Cys
XM_011522533.1:c.7153G>T	XP_011520835.1:p.Gly2385Cys
XM_011522534.1:c.7096G>T	XP_011520836.1:p.Gly2366Cys
XM_011522535.1:c.5182G>T	XP_011520837.1:p.Gly1728Cys
XM_011522536.1:c.7360G>T	XP_011520838.1:p.Gly2454Cys
XM_011522537.1:c.4360G>T	XP_011520839.1:p.Gly1454Cys
XR_932867.1:n.7375G>T
XR_932868.1:n.7375G>T
XR_932869.1:n.7375G>T
XR_932870.1:n.7375G>T
XM_005255370.3:c.4237G>T	XP_005255427.1:p.Gly1413Cys
XM_011522528.3:c.7336G>T	XP_011520830.1:p.Gly2446Cys
XM_011522529.2:c.7336G>T	XP_011520831.1:p.Gly2446Cys
XM_011522537.2:c.4360G>T	XP_011520839.1:p.Gly1454Cys
XM_024450298.1:c.7402G>T	XP_024306066.1:p.Gly2468Cys
XM_024450299.1:c.7330G>T	XP_024306067.1:p.Gly2444Cys
XM_024450300.1:c.7192G>T	XP_024306068.1:p.Gly2398Cys
XM_024450301.1:c.5278G>T	XP_024306069.1:p.Gly1760Cys
NM_000296.4:c.7282G>T	NP_000287.4:p.Gly2428Cys
NM_001009944.3:c.7282G>T MANE Select	NP_001009944.3:p.Gly2428Cys