Canonical Allele Identifier: CA394325443

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140408A>T (hg19) ; chr16:g.2090407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090407A>T , CM000678.2:g.2090407A>T	GRCh38
NC_000016.9:g.2140408A>T , CM000678.1:g.2140408A>T	GRCh37
NC_000016.8:g.2080409A>T	NCBI36
NG_005895.1:g.46102A>T , LRG_487:g.46102A>T
NG_008617.1:g.52814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12322T>A MANE Select	ENSP00000262304.4:p.Trp4108Arg
ENST00000262304.8:c.12322T>A	ENSP00000262304.4:p.Trp4108Arg
ENST00000423118.5:c.12319T>A	ENSP00000399501.1:p.Trp4107Arg
ENST00000472577.1:n.350T>A
NM_000296.3:c.12319T>A	NP_000287.3:p.Trp4107Arg
NM_001009944.2:c.12322T>A	NP_001009944.2:p.Trp4108Arg
XM_005255370.2:c.9277T>A	XP_005255427.1:p.Trp3093Arg
XM_011522525.1:c.12400T>A	XP_011520827.1:p.Trp4134Arg
XM_011522526.1:c.12397T>A	XP_011520828.1:p.Trp4133Arg
XM_011522527.1:c.12382T>A	XP_011520829.1:p.Trp4128Arg
XM_011522528.1:c.12376T>A	XP_011520830.1:p.Trp4126Arg
XM_011522529.1:c.12373T>A	XP_011520831.1:p.Trp4125Arg
XM_011522530.1:c.12346T>A	XP_011520832.1:p.Trp4116Arg
XM_011522531.1:c.12328T>A	XP_011520833.1:p.Trp4110Arg
XM_011522532.1:c.12274T>A	XP_011520834.1:p.Trp4092Arg
XM_011522533.1:c.12193T>A	XP_011520835.1:p.Trp4065Arg
XM_011522534.1:c.12136T>A	XP_011520836.1:p.Trp4046Arg
XM_011522535.1:c.10222T>A	XP_011520837.1:p.Trp3408Arg
XM_011522537.1:c.9400T>A	XP_011520839.1:p.Trp3134Arg
XR_932867.1:n.12240T>A
XM_005255370.3:c.9277T>A	XP_005255427.1:p.Trp3093Arg
XM_011522528.3:c.12376T>A	XP_011520830.1:p.Trp4126Arg
XM_011522529.2:c.12373T>A	XP_011520831.1:p.Trp4125Arg
XM_011522537.2:c.9400T>A	XP_011520839.1:p.Trp3134Arg
XM_024450298.1:c.12442T>A	XP_024306066.1:p.Trp4148Arg
XM_024450299.1:c.12370T>A	XP_024306067.1:p.Trp4124Arg
XM_024450300.1:c.12232T>A	XP_024306068.1:p.Trp4078Arg
XM_024450301.1:c.10318T>A	XP_024306069.1:p.Trp3440Arg
NM_000296.4:c.12319T>A	NP_000287.4:p.Trp4107Arg
NM_001009944.3:c.12322T>A MANE Select	NP_001009944.3:p.Trp4108Arg