Canonical Allele Identifier: CA394382707

Gene: PKD1

Linked Data

• dbSNP Id: rs561267008
• MyVariant Identifiers: chr16:g.2161531G>C (hg19) ; chr16:g.2111530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111530G>C , CM000678.2:g.2111530G>C	GRCh38
NC_000016.9:g.2161531G>C , CM000678.1:g.2161531G>C	GRCh37
NC_000016.8:g.2101532G>C	NCBI36
NG_008617.1:g.29369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3637C>G MANE Select	ENSP00000262304.4:p.Arg1213Gly
ENST00000262304.8:c.3637C>G	ENSP00000262304.4:p.Arg1213Gly
ENST00000415938.7:n.310+810C>G
ENST00000423118.5:c.3637C>G	ENSP00000399501.1:p.Arg1213Gly
ENST00000468674.5:n.430+810C>G
ENST00000469241.2:n.587C>G
ENST00000483024.1:c.233+286C>G
ENST00000483731.5:n.790+810C>G
ENST00000488185.2:c.473-3172C>G
ENST00000565639.6:n.773+810C>G
ENST00000568591.5:c.2226+810C>G	ENSP00000457162.1:n.2226+810C>G
ENST00000569983.5:n.421+810C>G
NM_000296.3:c.3637C>G	NP_000287.3:p.Arg1213Gly
NM_001009944.2:c.3637C>G	NP_001009944.2:p.Arg1213Gly
XM_005255370.2:c.592C>G	XP_005255427.1:p.Arg198Gly
XM_011522525.1:c.3715C>G	XP_011520827.1:p.Arg1239Gly
XM_011522526.1:c.3715C>G	XP_011520828.1:p.Arg1239Gly
XM_011522527.1:c.3715C>G	XP_011520829.1:p.Arg1239Gly
XM_011522528.1:c.3691C>G	XP_011520830.1:p.Arg1231Gly
XM_011522529.1:c.3691C>G	XP_011520831.1:p.Arg1231Gly
XM_011522530.1:c.3661C>G	XP_011520832.1:p.Arg1221Gly
XM_011522531.1:c.3643C>G	XP_011520833.1:p.Arg1215Gly
XM_011522532.1:c.3589C>G	XP_011520834.1:p.Arg1197Gly
XM_011522533.1:c.3508C>G	XP_011520835.1:p.Arg1170Gly
XM_011522534.1:c.3451C>G	XP_011520836.1:p.Arg1151Gly
XM_011522535.1:c.1537C>G	XP_011520837.1:p.Arg513Gly
XM_011522536.1:c.3715C>G	XP_011520838.1:p.Arg1239Gly
XM_011522537.1:c.715C>G	XP_011520839.1:p.Arg239Gly
XR_932867.1:n.3730C>G
XR_932868.1:n.3730C>G
XR_932869.1:n.3730C>G
XR_932870.1:n.3730C>G
XM_005255370.3:c.592C>G	XP_005255427.1:p.Arg198Gly
XM_011522528.3:c.3691C>G	XP_011520830.1:p.Arg1231Gly
XM_011522529.2:c.3691C>G	XP_011520831.1:p.Arg1231Gly
XM_011522537.2:c.715C>G	XP_011520839.1:p.Arg239Gly
XM_024450298.1:c.3757C>G	XP_024306066.1:p.Arg1253Gly
XM_024450299.1:c.3685C>G	XP_024306067.1:p.Arg1229Gly
XM_024450300.1:c.3547C>G	XP_024306068.1:p.Arg1183Gly
XM_024450301.1:c.1633C>G	XP_024306069.1:p.Arg545Gly
NM_000296.4:c.3637C>G	NP_000287.4:p.Arg1213Gly
NM_001009944.3:c.3637C>G MANE Select	NP_001009944.3:p.Arg1213Gly