Canonical Allele Identifier: CA394326111

Gene: PKD1

Linked Data

• dbSNP Id: rs1280965766
• gnomAD v2: 16-2140490-C-A
• gnomAD v4: 16-2090489-C-A
• MyVariant Identifiers: chr16:g.2140490C>A (hg19) ; chr16:g.2090489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090489C>A , CM000678.2:g.2090489C>A	GRCh38
NC_000016.9:g.2140490C>A , CM000678.1:g.2140490C>A	GRCh37
NC_000016.8:g.2080491C>A	NCBI36
NG_005895.1:g.46184C>A , LRG_487:g.46184C>A
NG_008617.1:g.52732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12240G>T MANE Select	ENSP00000262304.4:p.Trp4080Cys
ENST00000262304.8:c.12240G>T	ENSP00000262304.4:p.Trp4080Cys
ENST00000423118.5:c.12237G>T	ENSP00000399501.1:p.Trp4079Cys
ENST00000472577.1:n.268G>T
NM_000296.3:c.12237G>T	NP_000287.3:p.Trp4079Cys
NM_001009944.2:c.12240G>T	NP_001009944.2:p.Trp4080Cys
XM_005255370.2:c.9195G>T	XP_005255427.1:p.Trp3065Cys
XM_011522525.1:c.12318G>T	XP_011520827.1:p.Trp4106Cys
XM_011522526.1:c.12315G>T	XP_011520828.1:p.Trp4105Cys
XM_011522527.1:c.12300G>T	XP_011520829.1:p.Trp4100Cys
XM_011522528.1:c.12294G>T	XP_011520830.1:p.Trp4098Cys
XM_011522529.1:c.12291G>T	XP_011520831.1:p.Trp4097Cys
XM_011522530.1:c.12264G>T	XP_011520832.1:p.Trp4088Cys
XM_011522531.1:c.12246G>T	XP_011520833.1:p.Trp4082Cys
XM_011522532.1:c.12192G>T	XP_011520834.1:p.Trp4064Cys
XM_011522533.1:c.12111G>T	XP_011520835.1:p.Trp4037Cys
XM_011522534.1:c.12054G>T	XP_011520836.1:p.Trp4018Cys
XM_011522535.1:c.10140G>T	XP_011520837.1:p.Trp3380Cys
XM_011522537.1:c.9318G>T	XP_011520839.1:p.Trp3106Cys
XR_932867.1:n.12158G>T
XM_005255370.3:c.9195G>T	XP_005255427.1:p.Trp3065Cys
XM_011522528.3:c.12294G>T	XP_011520830.1:p.Trp4098Cys
XM_011522529.2:c.12291G>T	XP_011520831.1:p.Trp4097Cys
XM_011522537.2:c.9318G>T	XP_011520839.1:p.Trp3106Cys
XM_024450298.1:c.12360G>T	XP_024306066.1:p.Trp4120Cys
XM_024450299.1:c.12288G>T	XP_024306067.1:p.Trp4096Cys
XM_024450300.1:c.12150G>T	XP_024306068.1:p.Trp4050Cys
XM_024450301.1:c.10236G>T	XP_024306069.1:p.Trp3412Cys
NM_000296.4:c.12237G>T	NP_000287.4:p.Trp4079Cys
NM_001009944.3:c.12240G>T MANE Select	NP_001009944.3:p.Trp4080Cys