Canonical Allele Identifier: CA394325711

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140444A>T (hg19) ; chr16:g.2090443A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12286T>A MANE Select	ENSP00000262304.4:p.Trp4096Arg
ENST00000262304.8:c.12286T>A	ENSP00000262304.4:p.Trp4096Arg
ENST00000423118.5:c.12283T>A	ENSP00000399501.1:p.Trp4095Arg
ENST00000472577.1:n.314T>A
NM_000296.3:c.12283T>A	NP_000287.3:p.Trp4095Arg
NM_001009944.2:c.12286T>A	NP_001009944.2:p.Trp4096Arg
XM_005255370.2:c.9241T>A	XP_005255427.1:p.Trp3081Arg
XM_011522525.1:c.12364T>A	XP_011520827.1:p.Trp4122Arg
XM_011522526.1:c.12361T>A	XP_011520828.1:p.Trp4121Arg
XM_011522527.1:c.12346T>A	XP_011520829.1:p.Trp4116Arg
XM_011522528.1:c.12340T>A	XP_011520830.1:p.Trp4114Arg
XM_011522529.1:c.12337T>A	XP_011520831.1:p.Trp4113Arg
XM_011522530.1:c.12310T>A	XP_011520832.1:p.Trp4104Arg
XM_011522531.1:c.12292T>A	XP_011520833.1:p.Trp4098Arg
XM_011522532.1:c.12238T>A	XP_011520834.1:p.Trp4080Arg
XM_011522533.1:c.12157T>A	XP_011520835.1:p.Trp4053Arg
XM_011522534.1:c.12100T>A	XP_011520836.1:p.Trp4034Arg
XM_011522535.1:c.10186T>A	XP_011520837.1:p.Trp3396Arg
XM_011522537.1:c.9364T>A	XP_011520839.1:p.Trp3122Arg
XR_932867.1:n.12204T>A
XM_005255370.3:c.9241T>A	XP_005255427.1:p.Trp3081Arg
XM_011522528.3:c.12340T>A	XP_011520830.1:p.Trp4114Arg
XM_011522529.2:c.12337T>A	XP_011520831.1:p.Trp4113Arg
XM_011522537.2:c.9364T>A	XP_011520839.1:p.Trp3122Arg
XM_024450298.1:c.12406T>A	XP_024306066.1:p.Trp4136Arg
XM_024450299.1:c.12334T>A	XP_024306067.1:p.Trp4112Arg
XM_024450300.1:c.12196T>A	XP_024306068.1:p.Trp4066Arg
XM_024450301.1:c.10282T>A	XP_024306069.1:p.Trp3428Arg
NM_000296.4:c.12283T>A	NP_000287.4:p.Trp4095Arg
NM_001009944.3:c.12286T>A MANE Select	NP_001009944.3:p.Trp4096Arg