Canonical Allele Identifier: CA493044414

Gene: PKD1

Linked Data

• gnomAD v4: 16-2090429-C-T
• MyVariant Identifiers: chr16:g.2140430C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090429C>T , CM000678.2:g.2090429C>T	GRCh38
NC_000016.9:g.2140430C>T , CM000678.1:g.2140430C>T	GRCh37
NC_000016.8:g.2080431C>T	NCBI36
NG_005895.1:g.46124C>T , LRG_487:g.46124C>T
NG_008617.1:g.52792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12300G>A MANE Select	ENSP00000262304.4:p.Arg4100=
ENST00000262304.8:c.12300G>A	ENSP00000262304.4:p.Arg4100=
ENST00000423118.5:c.12297G>A	ENSP00000399501.1:p.Arg4099=
ENST00000472577.1:n.328G>A
NM_000296.3:c.12297G>A	NP_000287.3:p.Arg4099=
NM_001009944.2:c.12300G>A	NP_001009944.2:p.Arg4100=
XM_005255370.2:c.9255G>A	XP_005255427.1:p.Arg3085=
XM_011522525.1:c.12378G>A	XP_011520827.1:p.Arg4126=
XM_011522526.1:c.12375G>A	XP_011520828.1:p.Arg4125=
XM_011522527.1:c.12360G>A	XP_011520829.1:p.Arg4120=
XM_011522528.1:c.12354G>A	XP_011520830.1:p.Arg4118=
XM_011522529.1:c.12351G>A	XP_011520831.1:p.Arg4117=
XM_011522530.1:c.12324G>A	XP_011520832.1:p.Arg4108=
XM_011522531.1:c.12306G>A	XP_011520833.1:p.Arg4102=
XM_011522532.1:c.12252G>A	XP_011520834.1:p.Arg4084=
XM_011522533.1:c.12171G>A	XP_011520835.1:p.Arg4057=
XM_011522534.1:c.12114G>A	XP_011520836.1:p.Arg4038=
XM_011522535.1:c.10200G>A	XP_011520837.1:p.Arg3400=
XM_011522537.1:c.9378G>A	XP_011520839.1:p.Arg3126=
XR_932867.1:n.12218G>A
XM_005255370.3:c.9255G>A	XP_005255427.1:p.Arg3085=
XM_011522528.3:c.12354G>A	XP_011520830.1:p.Arg4118=
XM_011522529.2:c.12351G>A	XP_011520831.1:p.Arg4117=
XM_011522537.2:c.9378G>A	XP_011520839.1:p.Arg3126=
XM_024450298.1:c.12420G>A	XP_024306066.1:p.Arg4140=
XM_024450299.1:c.12348G>A	XP_024306067.1:p.Arg4116=
XM_024450300.1:c.12210G>A	XP_024306068.1:p.Arg4070=
XM_024450301.1:c.10296G>A	XP_024306069.1:p.Arg3432=
NM_000296.4:c.12297G>A	NP_000287.4:p.Arg4099=
NM_001009944.3:c.12300G>A MANE Select	NP_001009944.3:p.Arg4100=