Canonical Allele Identifier: CA394393487

Gene: PKD1

Linked Data

• gnomAD v4: 16-2117932-C-T
• MyVariant Identifiers: chr16:g.2167933C>T (hg19) ; chr16:g.2117932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117932C>T , CM000678.2:g.2117932C>T	GRCh38
NC_000016.9:g.2167933C>T , CM000678.1:g.2167933C>T	GRCh37
NC_000016.8:g.2107934C>T	NCBI36
NG_008617.1:g.22967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1060G>A MANE Select	ENSP00000262304.4:p.Ala354Thr
ENST00000262304.8:c.1060G>A	ENSP00000262304.4:p.Ala354Thr
ENST00000423118.5:c.1060G>A	ENSP00000399501.1:p.Ala354Thr
ENST00000488185.2:c.147G>A
ENST00000568591.5:c.28G>A	ENSP00000457162.1:p.Ala10Thr
ENST00000570150.1:n.193G>A
NM_000296.3:c.1060G>A	NP_000287.3:p.Ala354Thr
NM_001009944.2:c.1060G>A	NP_001009944.2:p.Ala354Thr
XM_011522525.1:c.1114G>A	XP_011520827.1:p.Ala372Thr
XM_011522526.1:c.1114G>A	XP_011520828.1:p.Ala372Thr
XM_011522527.1:c.1114G>A	XP_011520829.1:p.Ala372Thr
XM_011522528.1:c.1114G>A	XP_011520830.1:p.Ala372Thr
XM_011522529.1:c.1114G>A	XP_011520831.1:p.Ala372Thr
XM_011522530.1:c.1060G>A	XP_011520832.1:p.Ala354Thr
XM_011522531.1:c.1042G>A	XP_011520833.1:p.Ala348Thr
XM_011522532.1:c.988G>A	XP_011520834.1:p.Ala330Thr
XM_011522533.1:c.907G>A	XP_011520835.1:p.Ala303Thr
XM_011522534.1:c.850G>A	XP_011520836.1:p.Ala284Thr
XM_011522536.1:c.1114G>A	XP_011520838.1:p.Ala372Thr
XR_932867.1:n.1129G>A
XR_932868.1:n.1129G>A
XR_932869.1:n.1129G>A
XR_932870.1:n.1129G>A
XM_011522528.3:c.1114G>A	XP_011520830.1:p.Ala372Thr
XM_011522529.2:c.1114G>A	XP_011520831.1:p.Ala372Thr
XM_024450298.1:c.1060G>A	XP_024306066.1:p.Ala354Thr
XM_024450299.1:c.988G>A	XP_024306067.1:p.Ala330Thr
XM_024450300.1:c.850G>A	XP_024306068.1:p.Ala284Thr
NM_000296.4:c.1060G>A	NP_000287.4:p.Ala354Thr
NM_001009944.3:c.1060G>A MANE Select	NP_001009944.3:p.Ala354Thr