Canonical Allele Identifier: CA394325821

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12273G>A MANE Select	ENSP00000262304.4:p.Trp4091Ter
ENST00000262304.8:c.12273G>A	ENSP00000262304.4:p.Trp4091Ter
ENST00000423118.5:c.12270G>A	ENSP00000399501.1:p.Trp4090Ter
ENST00000472577.1:n.301G>A
NM_000296.3:c.12270G>A	NP_000287.3:p.Trp4090Ter
NM_001009944.2:c.12273G>A	NP_001009944.2:p.Trp4091Ter
XM_005255370.2:c.9228G>A	XP_005255427.1:p.Trp3076Ter
XM_011522525.1:c.12351G>A	XP_011520827.1:p.Trp4117Ter
XM_011522526.1:c.12348G>A	XP_011520828.1:p.Trp4116Ter
XM_011522527.1:c.12333G>A	XP_011520829.1:p.Trp4111Ter
XM_011522528.1:c.12327G>A	XP_011520830.1:p.Trp4109Ter
XM_011522529.1:c.12324G>A	XP_011520831.1:p.Trp4108Ter
XM_011522530.1:c.12297G>A	XP_011520832.1:p.Trp4099Ter
XM_011522531.1:c.12279G>A	XP_011520833.1:p.Trp4093Ter
XM_011522532.1:c.12225G>A	XP_011520834.1:p.Trp4075Ter
XM_011522533.1:c.12144G>A	XP_011520835.1:p.Trp4048Ter
XM_011522534.1:c.12087G>A	XP_011520836.1:p.Trp4029Ter
XM_011522535.1:c.10173G>A	XP_011520837.1:p.Trp3391Ter
XM_011522537.1:c.9351G>A	XP_011520839.1:p.Trp3117Ter
XR_932867.1:n.12191G>A
XM_005255370.3:c.9228G>A	XP_005255427.1:p.Trp3076Ter
XM_011522528.3:c.12327G>A	XP_011520830.1:p.Trp4109Ter
XM_011522529.2:c.12324G>A	XP_011520831.1:p.Trp4108Ter
XM_011522537.2:c.9351G>A	XP_011520839.1:p.Trp3117Ter
XM_024450298.1:c.12393G>A	XP_024306066.1:p.Trp4131Ter
XM_024450299.1:c.12321G>A	XP_024306067.1:p.Trp4107Ter
XM_024450300.1:c.12183G>A	XP_024306068.1:p.Trp4061Ter
XM_024450301.1:c.10269G>A	XP_024306069.1:p.Trp3423Ter
NM_000296.4:c.12270G>A	NP_000287.4:p.Trp4090Ter
NM_001009944.3:c.12273G>A MANE Select	NP_001009944.3:p.Trp4091Ter