Canonical Allele Identifier: CA394325438

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12322T>G MANE Select	ENSP00000262304.4:p.Trp4108Gly
ENST00000262304.8:c.12322T>G	ENSP00000262304.4:p.Trp4108Gly
ENST00000423118.5:c.12319T>G	ENSP00000399501.1:p.Trp4107Gly
ENST00000472577.1:n.350T>G
NM_000296.3:c.12319T>G	NP_000287.3:p.Trp4107Gly
NM_001009944.2:c.12322T>G	NP_001009944.2:p.Trp4108Gly
XM_005255370.2:c.9277T>G	XP_005255427.1:p.Trp3093Gly
XM_011522525.1:c.12400T>G	XP_011520827.1:p.Trp4134Gly
XM_011522526.1:c.12397T>G	XP_011520828.1:p.Trp4133Gly
XM_011522527.1:c.12382T>G	XP_011520829.1:p.Trp4128Gly
XM_011522528.1:c.12376T>G	XP_011520830.1:p.Trp4126Gly
XM_011522529.1:c.12373T>G	XP_011520831.1:p.Trp4125Gly
XM_011522530.1:c.12346T>G	XP_011520832.1:p.Trp4116Gly
XM_011522531.1:c.12328T>G	XP_011520833.1:p.Trp4110Gly
XM_011522532.1:c.12274T>G	XP_011520834.1:p.Trp4092Gly
XM_011522533.1:c.12193T>G	XP_011520835.1:p.Trp4065Gly
XM_011522534.1:c.12136T>G	XP_011520836.1:p.Trp4046Gly
XM_011522535.1:c.10222T>G	XP_011520837.1:p.Trp3408Gly
XM_011522537.1:c.9400T>G	XP_011520839.1:p.Trp3134Gly
XR_932867.1:n.12240T>G
XM_005255370.3:c.9277T>G	XP_005255427.1:p.Trp3093Gly
XM_011522528.3:c.12376T>G	XP_011520830.1:p.Trp4126Gly
XM_011522529.2:c.12373T>G	XP_011520831.1:p.Trp4125Gly
XM_011522537.2:c.9400T>G	XP_011520839.1:p.Trp3134Gly
XM_024450298.1:c.12442T>G	XP_024306066.1:p.Trp4148Gly
XM_024450299.1:c.12370T>G	XP_024306067.1:p.Trp4124Gly
XM_024450300.1:c.12232T>G	XP_024306068.1:p.Trp4078Gly
XM_024450301.1:c.10318T>G	XP_024306069.1:p.Trp3440Gly
NM_000296.4:c.12319T>G	NP_000287.4:p.Trp4107Gly
NM_001009944.3:c.12322T>G MANE Select	NP_001009944.3:p.Trp4108Gly