Canonical Allele Identifier: CA394325919

Gene: PKD1

Linked Data

• dbSNP Id: rs1429994481
• gnomAD v2: 16-2140468-C-T
• gnomAD v4: 16-2090467-C-T
• MyVariant Identifiers: chr16:g.2140468C>T (hg19) ; chr16:g.2090467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090467C>T , CM000678.2:g.2090467C>T	GRCh38
NC_000016.9:g.2140468C>T , CM000678.1:g.2140468C>T	GRCh37
NC_000016.8:g.2080469C>T	NCBI36
NG_005895.1:g.46162C>T , LRG_487:g.46162C>T
NG_008617.1:g.52754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12262G>A MANE Select	ENSP00000262304.4:p.Val4088Met
ENST00000262304.8:c.12262G>A	ENSP00000262304.4:p.Val4088Met
ENST00000423118.5:c.12259G>A	ENSP00000399501.1:p.Val4087Met
ENST00000472577.1:n.290G>A
NM_000296.3:c.12259G>A	NP_000287.3:p.Val4087Met
NM_001009944.2:c.12262G>A	NP_001009944.2:p.Val4088Met
XM_005255370.2:c.9217G>A	XP_005255427.1:p.Val3073Met
XM_011522525.1:c.12340G>A	XP_011520827.1:p.Val4114Met
XM_011522526.1:c.12337G>A	XP_011520828.1:p.Val4113Met
XM_011522527.1:c.12322G>A	XP_011520829.1:p.Val4108Met
XM_011522528.1:c.12316G>A	XP_011520830.1:p.Val4106Met
XM_011522529.1:c.12313G>A	XP_011520831.1:p.Val4105Met
XM_011522530.1:c.12286G>A	XP_011520832.1:p.Val4096Met
XM_011522531.1:c.12268G>A	XP_011520833.1:p.Val4090Met
XM_011522532.1:c.12214G>A	XP_011520834.1:p.Val4072Met
XM_011522533.1:c.12133G>A	XP_011520835.1:p.Val4045Met
XM_011522534.1:c.12076G>A	XP_011520836.1:p.Val4026Met
XM_011522535.1:c.10162G>A	XP_011520837.1:p.Val3388Met
XM_011522537.1:c.9340G>A	XP_011520839.1:p.Val3114Met
XR_932867.1:n.12180G>A
XM_005255370.3:c.9217G>A	XP_005255427.1:p.Val3073Met
XM_011522528.3:c.12316G>A	XP_011520830.1:p.Val4106Met
XM_011522529.2:c.12313G>A	XP_011520831.1:p.Val4105Met
XM_011522537.2:c.9340G>A	XP_011520839.1:p.Val3114Met
XM_024450298.1:c.12382G>A	XP_024306066.1:p.Val4128Met
XM_024450299.1:c.12310G>A	XP_024306067.1:p.Val4104Met
XM_024450300.1:c.12172G>A	XP_024306068.1:p.Val4058Met
XM_024450301.1:c.10258G>A	XP_024306069.1:p.Val3420Met
NM_000296.4:c.12259G>A	NP_000287.4:p.Val4087Met
NM_001009944.3:c.12262G>A MANE Select	NP_001009944.3:p.Val4088Met