Canonical Allele Identifier: CA394365149

Gene: PKD1

Linked Data

• ClinVar Variation Id: 448015
• ClinVar RCV Id: RCV000517204
• dbSNP Id: rs1555451368
• MyVariant Identifiers: chr16:g.2153840C>A (hg19) ; chr16:g.2103839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103839C>A , CM000678.2:g.2103839C>A	GRCh38
NC_000016.9:g.2153840C>A , CM000678.1:g.2153840C>A	GRCh37
NC_000016.8:g.2093841C>A	NCBI36
NG_008617.1:g.39382G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.8218G>T MANE Select	ENSP00000262304.4:p.Gly2740Ter
ENST00000262304.8:c.8218G>T	ENSP00000262304.4:p.Gly2740Ter
ENST00000415938.7:n.1463G>T
ENST00000423118.5:c.8218G>T	ENSP00000399501.1:p.Gly2740Ter
ENST00000483731.5:n.1943G>T
ENST00000486339.6:n.2354G>T
ENST00000487932.5:c.2905G>T	ENSP00000457132.1:p.Gly969Ter
ENST00000496574.6:n.2454G>T
ENST00000561991.5:n.740G>T
ENST00000565639.6:n.1926G>T
ENST00000567946.1:c.279G>T
NM_000296.3:c.8218G>T	NP_000287.3:p.Gly2740Ter
NM_001009944.2:c.8218G>T	NP_001009944.2:p.Gly2740Ter
XM_005255370.2:c.5173G>T	XP_005255427.1:p.Gly1725Ter
XM_011522525.1:c.8296G>T	XP_011520827.1:p.Gly2766Ter
XM_011522526.1:c.8296G>T	XP_011520828.1:p.Gly2766Ter
XM_011522527.1:c.8296G>T	XP_011520829.1:p.Gly2766Ter
XM_011522528.1:c.8272G>T	XP_011520830.1:p.Gly2758Ter
XM_011522529.1:c.8272G>T	XP_011520831.1:p.Gly2758Ter
XM_011522530.1:c.8242G>T	XP_011520832.1:p.Gly2748Ter
XM_011522531.1:c.8224G>T	XP_011520833.1:p.Gly2742Ter
XM_011522532.1:c.8170G>T	XP_011520834.1:p.Gly2724Ter
XM_011522533.1:c.8089G>T	XP_011520835.1:p.Gly2697Ter
XM_011522534.1:c.8032G>T	XP_011520836.1:p.Gly2678Ter
XM_011522535.1:c.6118G>T	XP_011520837.1:p.Gly2040Ter
XM_011522536.1:c.8296G>T	XP_011520838.1:p.Gly2766Ter
XM_011522537.1:c.5296G>T	XP_011520839.1:p.Gly1766Ter
XR_932867.1:n.8311G>T
XR_932868.1:n.8311G>T
XR_932869.1:n.8311G>T
XR_932870.1:n.8311G>T
XM_005255370.3:c.5173G>T	XP_005255427.1:p.Gly1725Ter
XM_011522528.3:c.8272G>T	XP_011520830.1:p.Gly2758Ter
XM_011522529.2:c.8272G>T	XP_011520831.1:p.Gly2758Ter
XM_011522537.2:c.5296G>T	XP_011520839.1:p.Gly1766Ter
XM_024450298.1:c.8338G>T	XP_024306066.1:p.Gly2780Ter
XM_024450299.1:c.8266G>T	XP_024306067.1:p.Gly2756Ter
XM_024450300.1:c.8128G>T	XP_024306068.1:p.Gly2710Ter
XM_024450301.1:c.6214G>T	XP_024306069.1:p.Gly2072Ter
NM_000296.4:c.8218G>T	NP_000287.4:p.Gly2740Ter
NM_001009944.3:c.8218G>T MANE Select	NP_001009944.3:p.Gly2740Ter