Canonical Allele Identifier: CA493044401

Gene: PKD1

Linked Data

• dbSNP Id: rs756893967
• gnomAD v2: 16-2140427-C-T
• gnomAD v4: 16-2090426-C-T
• MyVariant Identifiers: chr16:g.2140427C>T (hg19) ; chr16:g.2090426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090426C>T , CM000678.2:g.2090426C>T	GRCh38
NC_000016.9:g.2140427C>T , CM000678.1:g.2140427C>T	GRCh37
NC_000016.8:g.2080428C>T	NCBI36
NG_005895.1:g.46121C>T , LRG_487:g.46121C>T
NG_008617.1:g.52795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12303G>A MANE Select	ENSP00000262304.4:p.Leu4101=
ENST00000262304.8:c.12303G>A	ENSP00000262304.4:p.Leu4101=
ENST00000423118.5:c.12300G>A	ENSP00000399501.1:p.Leu4100=
ENST00000472577.1:n.331G>A
NM_000296.3:c.12300G>A	NP_000287.3:p.Leu4100=
NM_001009944.2:c.12303G>A	NP_001009944.2:p.Leu4101=
XM_005255370.2:c.9258G>A	XP_005255427.1:p.Leu3086=
XM_011522525.1:c.12381G>A	XP_011520827.1:p.Leu4127=
XM_011522526.1:c.12378G>A	XP_011520828.1:p.Leu4126=
XM_011522527.1:c.12363G>A	XP_011520829.1:p.Leu4121=
XM_011522528.1:c.12357G>A	XP_011520830.1:p.Leu4119=
XM_011522529.1:c.12354G>A	XP_011520831.1:p.Leu4118=
XM_011522530.1:c.12327G>A	XP_011520832.1:p.Leu4109=
XM_011522531.1:c.12309G>A	XP_011520833.1:p.Leu4103=
XM_011522532.1:c.12255G>A	XP_011520834.1:p.Leu4085=
XM_011522533.1:c.12174G>A	XP_011520835.1:p.Leu4058=
XM_011522534.1:c.12117G>A	XP_011520836.1:p.Leu4039=
XM_011522535.1:c.10203G>A	XP_011520837.1:p.Leu3401=
XM_011522537.1:c.9381G>A	XP_011520839.1:p.Leu3127=
XR_932867.1:n.12221G>A
XM_005255370.3:c.9258G>A	XP_005255427.1:p.Leu3086=
XM_011522528.3:c.12357G>A	XP_011520830.1:p.Leu4119=
XM_011522529.2:c.12354G>A	XP_011520831.1:p.Leu4118=
XM_011522537.2:c.9381G>A	XP_011520839.1:p.Leu3127=
XM_024450298.1:c.12423G>A	XP_024306066.1:p.Leu4141=
XM_024450299.1:c.12351G>A	XP_024306067.1:p.Leu4117=
XM_024450300.1:c.12213G>A	XP_024306068.1:p.Leu4071=
XM_024450301.1:c.10299G>A	XP_024306069.1:p.Leu3433=
NM_000296.4:c.12300G>A	NP_000287.4:p.Leu4100=
NM_001009944.3:c.12303G>A MANE Select	NP_001009944.3:p.Leu4101=