Canonical Allele Identifier: CA394355750

Gene: PKD1

Linked Data

• ClinVar Variation Id: 972842
• ClinVar RCV Id: RCV001249122
• dbSNP Id: rs1060499704
• MyVariant Identifiers: chr16:g.2150397C>T (hg19) ; chr16:g.2100396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2100396C>T , CM000678.2:g.2100396C>T	GRCh38
NC_000016.9:g.2150397C>T , CM000678.1:g.2150397C>T	GRCh37
NC_000016.8:g.2090398C>T	NCBI36
NG_008617.1:g.42825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.9568G>A MANE Select	ENSP00000262304.4:p.Gly3190Arg
ENST00000262304.8:c.9568G>A	ENSP00000262304.4:p.Gly3190Arg
ENST00000415938.7:n.2647G>A
ENST00000423118.5:c.9568G>A	ENSP00000399501.1:p.Gly3190Arg
ENST00000469851.1:n.291G>A
ENST00000471603.6:n.1212G>A
ENST00000480227.5:n.1305G>A
ENST00000483731.5:n.3454G>A
ENST00000483814.1:n.370G>A
ENST00000486339.6:n.3704G>A
ENST00000487932.5:c.4130G>A	ENSP00000457132.1:n.4130G>A
ENST00000496574.6:n.3804G>A
ENST00000562297.5:n.1301G>A
ENST00000566905.5:n.58G>A
ENST00000567946.1:c.1170G>A
ENST00000570193.5:n.12G>A
NM_000296.3:c.9568G>A	NP_000287.3:p.Gly3190Arg
NM_001009944.2:c.9568G>A	NP_001009944.2:p.Gly3190Arg
XM_005255370.2:c.6523G>A	XP_005255427.1:p.Gly2175Arg
XM_011522525.1:c.9646G>A	XP_011520827.1:p.Gly3216Arg
XM_011522526.1:c.9646G>A	XP_011520828.1:p.Gly3216Arg
XM_011522527.1:c.9628G>A	XP_011520829.1:p.Gly3210Arg
XM_011522528.1:c.9622G>A	XP_011520830.1:p.Gly3208Arg
XM_011522529.1:c.9622G>A	XP_011520831.1:p.Gly3208Arg
XM_011522530.1:c.9592G>A	XP_011520832.1:p.Gly3198Arg
XM_011522531.1:c.9574G>A	XP_011520833.1:p.Gly3192Arg
XM_011522532.1:c.9520G>A	XP_011520834.1:p.Gly3174Arg
XM_011522533.1:c.9439G>A	XP_011520835.1:p.Gly3147Arg
XM_011522534.1:c.9382G>A	XP_011520836.1:p.Gly3128Arg
XM_011522535.1:c.7468G>A	XP_011520837.1:p.Gly2490Arg
XM_011522536.1:c.9646G>A	XP_011520838.1:p.Gly3216Arg
XM_011522537.1:c.6646G>A	XP_011520839.1:p.Gly2216Arg
XR_932867.1:n.9661G>A
XR_932868.1:n.9661G>A
XR_932869.1:n.9661G>A
XR_932870.1:n.9661G>A
XM_005255370.3:c.6523G>A	XP_005255427.1:p.Gly2175Arg
XM_011522528.3:c.9622G>A	XP_011520830.1:p.Gly3208Arg
XM_011522529.2:c.9622G>A	XP_011520831.1:p.Gly3208Arg
XM_011522537.2:c.6646G>A	XP_011520839.1:p.Gly2216Arg
XM_024450298.1:c.9688G>A	XP_024306066.1:p.Gly3230Arg
XM_024450299.1:c.9616G>A	XP_024306067.1:p.Gly3206Arg
XM_024450300.1:c.9478G>A	XP_024306068.1:p.Gly3160Arg
XM_024450301.1:c.7564G>A	XP_024306069.1:p.Gly2522Arg
NM_000296.4:c.9568G>A	NP_000287.4:p.Gly3190Arg
NM_001009944.3:c.9568G>A MANE Select	NP_001009944.3:p.Gly3190Arg