Canonical Allele Identifier: CA394325479

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140413A>T (hg19) ; chr16:g.2090412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090412A>T , CM000678.2:g.2090412A>T	GRCh38
NC_000016.9:g.2140413A>T , CM000678.1:g.2140413A>T	GRCh37
NC_000016.8:g.2080414A>T	NCBI36
NG_005895.1:g.46107A>T , LRG_487:g.46107A>T
NG_008617.1:g.52809T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12317T>A MANE Select	ENSP00000262304.4:p.Leu4106His
ENST00000262304.8:c.12317T>A	ENSP00000262304.4:p.Leu4106His
ENST00000423118.5:c.12314T>A	ENSP00000399501.1:p.Leu4105His
ENST00000472577.1:n.345T>A
NM_000296.3:c.12314T>A	NP_000287.3:p.Leu4105His
NM_001009944.2:c.12317T>A	NP_001009944.2:p.Leu4106His
XM_005255370.2:c.9272T>A	XP_005255427.1:p.Leu3091His
XM_011522525.1:c.12395T>A	XP_011520827.1:p.Leu4132His
XM_011522526.1:c.12392T>A	XP_011520828.1:p.Leu4131His
XM_011522527.1:c.12377T>A	XP_011520829.1:p.Leu4126His
XM_011522528.1:c.12371T>A	XP_011520830.1:p.Leu4124His
XM_011522529.1:c.12368T>A	XP_011520831.1:p.Leu4123His
XM_011522530.1:c.12341T>A	XP_011520832.1:p.Leu4114His
XM_011522531.1:c.12323T>A	XP_011520833.1:p.Leu4108His
XM_011522532.1:c.12269T>A	XP_011520834.1:p.Leu4090His
XM_011522533.1:c.12188T>A	XP_011520835.1:p.Leu4063His
XM_011522534.1:c.12131T>A	XP_011520836.1:p.Leu4044His
XM_011522535.1:c.10217T>A	XP_011520837.1:p.Leu3406His
XM_011522537.1:c.9395T>A	XP_011520839.1:p.Leu3132His
XR_932867.1:n.12235T>A
XM_005255370.3:c.9272T>A	XP_005255427.1:p.Leu3091His
XM_011522528.3:c.12371T>A	XP_011520830.1:p.Leu4124His
XM_011522529.2:c.12368T>A	XP_011520831.1:p.Leu4123His
XM_011522537.2:c.9395T>A	XP_011520839.1:p.Leu3132His
XM_024450298.1:c.12437T>A	XP_024306066.1:p.Leu4146His
XM_024450299.1:c.12365T>A	XP_024306067.1:p.Leu4122His
XM_024450300.1:c.12227T>A	XP_024306068.1:p.Leu4076His
XM_024450301.1:c.10313T>A	XP_024306069.1:p.Leu3438His
NM_000296.4:c.12314T>A	NP_000287.4:p.Leu4105His
NM_001009944.3:c.12317T>A MANE Select	NP_001009944.3:p.Leu4106His