Canonical Allele Identifier: CA394325703

Gene: PKD1

Linked Data

• dbSNP Id: rs1274235394
• gnomAD v2: 16-2140444-A-C
• gnomAD v4: 16-2090443-A-C
• MyVariant Identifiers: chr16:g.2140444A>C (hg19) ; chr16:g.2090443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090443A>C , CM000678.2:g.2090443A>C	GRCh38
NC_000016.9:g.2140444A>C , CM000678.1:g.2140444A>C	GRCh37
NC_000016.8:g.2080445A>C	NCBI36
NG_005895.1:g.46138A>C , LRG_487:g.46138A>C
NG_008617.1:g.52778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12286T>G MANE Select	ENSP00000262304.4:p.Trp4096Gly
ENST00000262304.8:c.12286T>G	ENSP00000262304.4:p.Trp4096Gly
ENST00000423118.5:c.12283T>G	ENSP00000399501.1:p.Trp4095Gly
ENST00000472577.1:n.314T>G
NM_000296.3:c.12283T>G	NP_000287.3:p.Trp4095Gly
NM_001009944.2:c.12286T>G	NP_001009944.2:p.Trp4096Gly
XM_005255370.2:c.9241T>G	XP_005255427.1:p.Trp3081Gly
XM_011522525.1:c.12364T>G	XP_011520827.1:p.Trp4122Gly
XM_011522526.1:c.12361T>G	XP_011520828.1:p.Trp4121Gly
XM_011522527.1:c.12346T>G	XP_011520829.1:p.Trp4116Gly
XM_011522528.1:c.12340T>G	XP_011520830.1:p.Trp4114Gly
XM_011522529.1:c.12337T>G	XP_011520831.1:p.Trp4113Gly
XM_011522530.1:c.12310T>G	XP_011520832.1:p.Trp4104Gly
XM_011522531.1:c.12292T>G	XP_011520833.1:p.Trp4098Gly
XM_011522532.1:c.12238T>G	XP_011520834.1:p.Trp4080Gly
XM_011522533.1:c.12157T>G	XP_011520835.1:p.Trp4053Gly
XM_011522534.1:c.12100T>G	XP_011520836.1:p.Trp4034Gly
XM_011522535.1:c.10186T>G	XP_011520837.1:p.Trp3396Gly
XM_011522537.1:c.9364T>G	XP_011520839.1:p.Trp3122Gly
XR_932867.1:n.12204T>G
XM_005255370.3:c.9241T>G	XP_005255427.1:p.Trp3081Gly
XM_011522528.3:c.12340T>G	XP_011520830.1:p.Trp4114Gly
XM_011522529.2:c.12337T>G	XP_011520831.1:p.Trp4113Gly
XM_011522537.2:c.9364T>G	XP_011520839.1:p.Trp3122Gly
XM_024450298.1:c.12406T>G	XP_024306066.1:p.Trp4136Gly
XM_024450299.1:c.12334T>G	XP_024306067.1:p.Trp4112Gly
XM_024450300.1:c.12196T>G	XP_024306068.1:p.Trp4066Gly
XM_024450301.1:c.10282T>G	XP_024306069.1:p.Trp3428Gly
NM_000296.4:c.12283T>G	NP_000287.4:p.Trp4095Gly
NM_001009944.3:c.12286T>G MANE Select	NP_001009944.3:p.Trp4096Gly