Canonical Allele Identifier: CA394325819

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140457C>A (hg19) ; chr16:g.2090456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090456C>A , CM000678.2:g.2090456C>A	GRCh38
NC_000016.9:g.2140457C>A , CM000678.1:g.2140457C>A	GRCh37
NC_000016.8:g.2080458C>A	NCBI36
NG_005895.1:g.46151C>A , LRG_487:g.46151C>A
NG_008617.1:g.52765G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12273G>T MANE Select	ENSP00000262304.4:p.Trp4091Cys
ENST00000262304.8:c.12273G>T	ENSP00000262304.4:p.Trp4091Cys
ENST00000423118.5:c.12270G>T	ENSP00000399501.1:p.Trp4090Cys
ENST00000472577.1:n.301G>T
NM_000296.3:c.12270G>T	NP_000287.3:p.Trp4090Cys
NM_001009944.2:c.12273G>T	NP_001009944.2:p.Trp4091Cys
XM_005255370.2:c.9228G>T	XP_005255427.1:p.Trp3076Cys
XM_011522525.1:c.12351G>T	XP_011520827.1:p.Trp4117Cys
XM_011522526.1:c.12348G>T	XP_011520828.1:p.Trp4116Cys
XM_011522527.1:c.12333G>T	XP_011520829.1:p.Trp4111Cys
XM_011522528.1:c.12327G>T	XP_011520830.1:p.Trp4109Cys
XM_011522529.1:c.12324G>T	XP_011520831.1:p.Trp4108Cys
XM_011522530.1:c.12297G>T	XP_011520832.1:p.Trp4099Cys
XM_011522531.1:c.12279G>T	XP_011520833.1:p.Trp4093Cys
XM_011522532.1:c.12225G>T	XP_011520834.1:p.Trp4075Cys
XM_011522533.1:c.12144G>T	XP_011520835.1:p.Trp4048Cys
XM_011522534.1:c.12087G>T	XP_011520836.1:p.Trp4029Cys
XM_011522535.1:c.10173G>T	XP_011520837.1:p.Trp3391Cys
XM_011522537.1:c.9351G>T	XP_011520839.1:p.Trp3117Cys
XR_932867.1:n.12191G>T
XM_005255370.3:c.9228G>T	XP_005255427.1:p.Trp3076Cys
XM_011522528.3:c.12327G>T	XP_011520830.1:p.Trp4109Cys
XM_011522529.2:c.12324G>T	XP_011520831.1:p.Trp4108Cys
XM_011522537.2:c.9351G>T	XP_011520839.1:p.Trp3117Cys
XM_024450298.1:c.12393G>T	XP_024306066.1:p.Trp4131Cys
XM_024450299.1:c.12321G>T	XP_024306067.1:p.Trp4107Cys
XM_024450300.1:c.12183G>T	XP_024306068.1:p.Trp4061Cys
XM_024450301.1:c.10269G>T	XP_024306069.1:p.Trp3423Cys
NM_000296.4:c.12270G>T	NP_000287.4:p.Trp4090Cys
NM_001009944.3:c.12273G>T MANE Select	NP_001009944.3:p.Trp4091Cys