Canonical Allele Identifier: CA394382877

Gene: PKD1

Linked Data

• dbSNP Id: rs1253008342
• gnomAD v2: 16-2161617-C-T
• gnomAD v4: 16-2111616-C-T
• MyVariant Identifiers: chr16:g.2161617C>T (hg19) ; chr16:g.2111616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111616C>T , CM000678.2:g.2111616C>T	GRCh38
NC_000016.9:g.2161617C>T , CM000678.1:g.2161617C>T	GRCh37
NC_000016.8:g.2101618C>T	NCBI36
NG_008617.1:g.29283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3551G>A MANE Select	ENSP00000262304.4:p.Arg1184Lys
ENST00000262304.8:c.3551G>A	ENSP00000262304.4:p.Arg1184Lys
ENST00000415938.7:n.310+724G>A
ENST00000423118.5:c.3551G>A	ENSP00000399501.1:p.Arg1184Lys
ENST00000468674.5:n.430+724G>A
ENST00000469241.2:n.501G>A
ENST00000483024.1:c.233+200G>A
ENST00000483731.5:n.790+724G>A
ENST00000488185.2:c.473-3258G>A
ENST00000565639.6:n.773+724G>A
ENST00000568591.5:c.2226+724G>A	ENSP00000457162.1:n.2226+724G>A
ENST00000569983.5:n.421+724G>A
NM_000296.3:c.3551G>A	NP_000287.3:p.Arg1184Lys
NM_001009944.2:c.3551G>A	NP_001009944.2:p.Arg1184Lys
XM_005255370.2:c.506G>A	XP_005255427.1:p.Arg169Lys
XM_011522525.1:c.3629G>A	XP_011520827.1:p.Arg1210Lys
XM_011522526.1:c.3629G>A	XP_011520828.1:p.Arg1210Lys
XM_011522527.1:c.3629G>A	XP_011520829.1:p.Arg1210Lys
XM_011522528.1:c.3605G>A	XP_011520830.1:p.Arg1202Lys
XM_011522529.1:c.3605G>A	XP_011520831.1:p.Arg1202Lys
XM_011522530.1:c.3575G>A	XP_011520832.1:p.Arg1192Lys
XM_011522531.1:c.3557G>A	XP_011520833.1:p.Arg1186Lys
XM_011522532.1:c.3503G>A	XP_011520834.1:p.Arg1168Lys
XM_011522533.1:c.3422G>A	XP_011520835.1:p.Arg1141Lys
XM_011522534.1:c.3365G>A	XP_011520836.1:p.Arg1122Lys
XM_011522535.1:c.1451G>A	XP_011520837.1:p.Arg484Lys
XM_011522536.1:c.3629G>A	XP_011520838.1:p.Arg1210Lys
XM_011522537.1:c.629G>A	XP_011520839.1:p.Arg210Lys
XR_932867.1:n.3644G>A
XR_932868.1:n.3644G>A
XR_932869.1:n.3644G>A
XR_932870.1:n.3644G>A
XM_005255370.3:c.506G>A	XP_005255427.1:p.Arg169Lys
XM_011522528.3:c.3605G>A	XP_011520830.1:p.Arg1202Lys
XM_011522529.2:c.3605G>A	XP_011520831.1:p.Arg1202Lys
XM_011522537.2:c.629G>A	XP_011520839.1:p.Arg210Lys
XM_024450298.1:c.3671G>A	XP_024306066.1:p.Arg1224Lys
XM_024450299.1:c.3599G>A	XP_024306067.1:p.Arg1200Lys
XM_024450300.1:c.3461G>A	XP_024306068.1:p.Arg1154Lys
XM_024450301.1:c.1547G>A	XP_024306069.1:p.Arg516Lys
NM_000296.4:c.3551G>A	NP_000287.4:p.Arg1184Lys
NM_001009944.3:c.3551G>A MANE Select	NP_001009944.3:p.Arg1184Lys