Canonical Allele Identifier: CA394326357

Gene: PKD1

Linked Data

• dbSNP Id: rs763007424
• gnomAD v3: 16-2090527-C-A
• gnomAD v4: 16-2090527-C-A
• MyVariant Identifiers: chr16:g.2140528C>A (hg19) ; chr16:g.2090527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090527C>A , CM000678.2:g.2090527C>A	GRCh38
NC_000016.9:g.2140528C>A , CM000678.1:g.2140528C>A	GRCh37
NC_000016.8:g.2080529C>A	NCBI36
NG_005895.1:g.46222C>A , LRG_487:g.46222C>A
NG_008617.1:g.52694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12202G>T MANE Select	ENSP00000262304.4:p.Gly4068Trp
ENST00000262304.8:c.12202G>T	ENSP00000262304.4:p.Gly4068Trp
ENST00000423118.5:c.12199G>T	ENSP00000399501.1:p.Gly4067Trp
ENST00000472577.1:n.230G>T
NM_000296.3:c.12199G>T	NP_000287.3:p.Gly4067Trp
NM_001009944.2:c.12202G>T	NP_001009944.2:p.Gly4068Trp
XM_005255370.2:c.9157G>T	XP_005255427.1:p.Gly3053Trp
XM_011522525.1:c.12280G>T	XP_011520827.1:p.Gly4094Trp
XM_011522526.1:c.12277G>T	XP_011520828.1:p.Gly4093Trp
XM_011522527.1:c.12262G>T	XP_011520829.1:p.Gly4088Trp
XM_011522528.1:c.12256G>T	XP_011520830.1:p.Gly4086Trp
XM_011522529.1:c.12253G>T	XP_011520831.1:p.Gly4085Trp
XM_011522530.1:c.12226G>T	XP_011520832.1:p.Gly4076Trp
XM_011522531.1:c.12208G>T	XP_011520833.1:p.Gly4070Trp
XM_011522532.1:c.12154G>T	XP_011520834.1:p.Gly4052Trp
XM_011522533.1:c.12073G>T	XP_011520835.1:p.Gly4025Trp
XM_011522534.1:c.12016G>T	XP_011520836.1:p.Gly4006Trp
XM_011522535.1:c.10102G>T	XP_011520837.1:p.Gly3368Trp
XM_011522537.1:c.9280G>T	XP_011520839.1:p.Gly3094Trp
XR_932867.1:n.12120G>T
XM_005255370.3:c.9157G>T	XP_005255427.1:p.Gly3053Trp
XM_011522528.3:c.12256G>T	XP_011520830.1:p.Gly4086Trp
XM_011522529.2:c.12253G>T	XP_011520831.1:p.Gly4085Trp
XM_011522537.2:c.9280G>T	XP_011520839.1:p.Gly3094Trp
XM_024450298.1:c.12322G>T	XP_024306066.1:p.Gly4108Trp
XM_024450299.1:c.12250G>T	XP_024306067.1:p.Gly4084Trp
XM_024450300.1:c.12112G>T	XP_024306068.1:p.Gly4038Trp
XM_024450301.1:c.10198G>T	XP_024306069.1:p.Gly3400Trp
NM_000296.4:c.12199G>T	NP_000287.4:p.Gly4067Trp
NM_001009944.3:c.12202G>T MANE Select	NP_001009944.3:p.Gly4068Trp