Canonical Allele Identifier: CA276764030

Gene: PKD1

Linked Data

• dbSNP Id: rs376095336
• gnomAD v3: 16-2090373-C-T
• gnomAD v4: 16-2090373-C-T
• MyVariant Identifiers: chr16:g.2140374C>T (hg19) ; chr16:g.2090373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090373C>T , CM000678.2:g.2090373C>T	GRCh38
NC_000016.9:g.2140374C>T , CM000678.1:g.2140374C>T	GRCh37
NC_000016.8:g.2080375C>T	NCBI36
NG_005895.1:g.46068C>T , LRG_487:g.46068C>T
NG_008617.1:g.52848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12356G>A MANE Select	ENSP00000262304.4:p.Arg4119Gln
ENST00000262304.8:c.12356G>A	ENSP00000262304.4:p.Arg4119Gln
ENST00000423118.5:c.12353G>A	ENSP00000399501.1:p.Arg4118Gln
ENST00000472577.1:n.384G>A
NM_000296.3:c.12353G>A	NP_000287.3:p.Arg4118Gln
NM_001009944.2:c.12356G>A	NP_001009944.2:p.Arg4119Gln
XM_005255370.2:c.9311G>A	XP_005255427.1:p.Arg3104Gln
XM_011522525.1:c.12434G>A	XP_011520827.1:p.Arg4145Gln
XM_011522526.1:c.12431G>A	XP_011520828.1:p.Arg4144Gln
XM_011522527.1:c.12416G>A	XP_011520829.1:p.Arg4139Gln
XM_011522528.1:c.12410G>A	XP_011520830.1:p.Arg4137Gln
XM_011522529.1:c.12407G>A	XP_011520831.1:p.Arg4136Gln
XM_011522530.1:c.12380G>A	XP_011520832.1:p.Arg4127Gln
XM_011522531.1:c.12362G>A	XP_011520833.1:p.Arg4121Gln
XM_011522532.1:c.12308G>A	XP_011520834.1:p.Arg4103Gln
XM_011522533.1:c.12227G>A	XP_011520835.1:p.Arg4076Gln
XM_011522534.1:c.12170G>A	XP_011520836.1:p.Arg4057Gln
XM_011522535.1:c.10256G>A	XP_011520837.1:p.Arg3419Gln
XM_011522537.1:c.9434G>A	XP_011520839.1:p.Arg3145Gln
XR_932867.1:n.12274G>A
XM_005255370.3:c.9311G>A	XP_005255427.1:p.Arg3104Gln
XM_011522528.3:c.12410G>A	XP_011520830.1:p.Arg4137Gln
XM_011522529.2:c.12407G>A	XP_011520831.1:p.Arg4136Gln
XM_011522537.2:c.9434G>A	XP_011520839.1:p.Arg3145Gln
XM_024450298.1:c.12476G>A	XP_024306066.1:p.Arg4159Gln
XM_024450299.1:c.12404G>A	XP_024306067.1:p.Arg4135Gln
XM_024450300.1:c.12266G>A	XP_024306068.1:p.Arg4089Gln
XM_024450301.1:c.10352G>A	XP_024306069.1:p.Arg3451Gln
NM_000296.4:c.12353G>A	NP_000287.4:p.Arg4118Gln
NM_001009944.3:c.12356G>A MANE Select	NP_001009944.3:p.Arg4119Gln