Canonical Allele Identifier: CA394382908

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161633G>C (hg19) ; chr16:g.2111632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111632G>C , CM000678.2:g.2111632G>C	GRCh38
NC_000016.9:g.2161633G>C , CM000678.1:g.2161633G>C	GRCh37
NC_000016.8:g.2101634G>C	NCBI36
NG_008617.1:g.29267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3535C>G MANE Select	ENSP00000262304.4:p.His1179Asp
ENST00000262304.8:c.3535C>G	ENSP00000262304.4:p.His1179Asp
ENST00000415938.7:n.310+708C>G
ENST00000423118.5:c.3535C>G	ENSP00000399501.1:p.His1179Asp
ENST00000468674.5:n.430+708C>G
ENST00000469241.2:n.485C>G
ENST00000483024.1:c.233+184C>G
ENST00000483731.5:n.790+708C>G
ENST00000488185.2:c.473-3274C>G
ENST00000565639.6:n.773+708C>G
ENST00000568591.5:c.2226+708C>G	ENSP00000457162.1:n.2226+708C>G
ENST00000569983.5:n.421+708C>G
NM_000296.3:c.3535C>G	NP_000287.3:p.His1179Asp
NM_001009944.2:c.3535C>G	NP_001009944.2:p.His1179Asp
XM_005255370.2:c.490C>G	XP_005255427.1:p.His164Asp
XM_011522525.1:c.3613C>G	XP_011520827.1:p.His1205Asp
XM_011522526.1:c.3613C>G	XP_011520828.1:p.His1205Asp
XM_011522527.1:c.3613C>G	XP_011520829.1:p.His1205Asp
XM_011522528.1:c.3589C>G	XP_011520830.1:p.His1197Asp
XM_011522529.1:c.3589C>G	XP_011520831.1:p.His1197Asp
XM_011522530.1:c.3559C>G	XP_011520832.1:p.His1187Asp
XM_011522531.1:c.3541C>G	XP_011520833.1:p.His1181Asp
XM_011522532.1:c.3487C>G	XP_011520834.1:p.His1163Asp
XM_011522533.1:c.3406C>G	XP_011520835.1:p.His1136Asp
XM_011522534.1:c.3349C>G	XP_011520836.1:p.His1117Asp
XM_011522535.1:c.1435C>G	XP_011520837.1:p.His479Asp
XM_011522536.1:c.3613C>G	XP_011520838.1:p.His1205Asp
XM_011522537.1:c.613C>G	XP_011520839.1:p.His205Asp
XR_932867.1:n.3628C>G
XR_932868.1:n.3628C>G
XR_932869.1:n.3628C>G
XR_932870.1:n.3628C>G
XM_005255370.3:c.490C>G	XP_005255427.1:p.His164Asp
XM_011522528.3:c.3589C>G	XP_011520830.1:p.His1197Asp
XM_011522529.2:c.3589C>G	XP_011520831.1:p.His1197Asp
XM_011522537.2:c.613C>G	XP_011520839.1:p.His205Asp
XM_024450298.1:c.3655C>G	XP_024306066.1:p.His1219Asp
XM_024450299.1:c.3583C>G	XP_024306067.1:p.His1195Asp
XM_024450300.1:c.3445C>G	XP_024306068.1:p.His1149Asp
XM_024450301.1:c.1531C>G	XP_024306069.1:p.His511Asp
NM_000296.4:c.3535C>G	NP_000287.4:p.His1179Asp
NM_001009944.3:c.3535C>G MANE Select	NP_001009944.3:p.His1179Asp