Canonical Allele Identifier: CA394325178

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140380A>T (hg19) ; chr16:g.2090379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090379A>T , CM000678.2:g.2090379A>T	GRCh38
NC_000016.9:g.2140380A>T , CM000678.1:g.2140380A>T	GRCh37
NC_000016.8:g.2080381A>T	NCBI36
NG_005895.1:g.46074A>T , LRG_487:g.46074A>T
NG_008617.1:g.52842T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12350T>A MANE Select	ENSP00000262304.4:p.Leu4117Gln
ENST00000262304.8:c.12350T>A	ENSP00000262304.4:p.Leu4117Gln
ENST00000423118.5:c.12347T>A	ENSP00000399501.1:p.Leu4116Gln
ENST00000472577.1:n.378T>A
NM_000296.3:c.12347T>A	NP_000287.3:p.Leu4116Gln
NM_001009944.2:c.12350T>A	NP_001009944.2:p.Leu4117Gln
XM_005255370.2:c.9305T>A	XP_005255427.1:p.Leu3102Gln
XM_011522525.1:c.12428T>A	XP_011520827.1:p.Leu4143Gln
XM_011522526.1:c.12425T>A	XP_011520828.1:p.Leu4142Gln
XM_011522527.1:c.12410T>A	XP_011520829.1:p.Leu4137Gln
XM_011522528.1:c.12404T>A	XP_011520830.1:p.Leu4135Gln
XM_011522529.1:c.12401T>A	XP_011520831.1:p.Leu4134Gln
XM_011522530.1:c.12374T>A	XP_011520832.1:p.Leu4125Gln
XM_011522531.1:c.12356T>A	XP_011520833.1:p.Leu4119Gln
XM_011522532.1:c.12302T>A	XP_011520834.1:p.Leu4101Gln
XM_011522533.1:c.12221T>A	XP_011520835.1:p.Leu4074Gln
XM_011522534.1:c.12164T>A	XP_011520836.1:p.Leu4055Gln
XM_011522535.1:c.10250T>A	XP_011520837.1:p.Leu3417Gln
XM_011522537.1:c.9428T>A	XP_011520839.1:p.Leu3143Gln
XR_932867.1:n.12268T>A
XM_005255370.3:c.9305T>A	XP_005255427.1:p.Leu3102Gln
XM_011522528.3:c.12404T>A	XP_011520830.1:p.Leu4135Gln
XM_011522529.2:c.12401T>A	XP_011520831.1:p.Leu4134Gln
XM_011522537.2:c.9428T>A	XP_011520839.1:p.Leu3143Gln
XM_024450298.1:c.12470T>A	XP_024306066.1:p.Leu4157Gln
XM_024450299.1:c.12398T>A	XP_024306067.1:p.Leu4133Gln
XM_024450300.1:c.12260T>A	XP_024306068.1:p.Leu4087Gln
XM_024450301.1:c.10346T>A	XP_024306069.1:p.Leu3449Gln
NM_000296.4:c.12347T>A	NP_000287.4:p.Leu4116Gln
NM_001009944.3:c.12350T>A MANE Select	NP_001009944.3:p.Leu4117Gln