Canonical Allele Identifier: CA493044472

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140445C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090444C>G , CM000678.2:g.2090444C>G	GRCh38
NC_000016.9:g.2140445C>G , CM000678.1:g.2140445C>G	GRCh37
NC_000016.8:g.2080446C>G	NCBI36
NG_005895.1:g.46139C>G , LRG_487:g.46139C>G
NG_008617.1:g.52777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12285G>C MANE Select	ENSP00000262304.4:p.Leu4095=
ENST00000262304.8:c.12285G>C	ENSP00000262304.4:p.Leu4095=
ENST00000423118.5:c.12282G>C	ENSP00000399501.1:p.Leu4094=
ENST00000472577.1:n.313G>C
NM_000296.3:c.12282G>C	NP_000287.3:p.Leu4094=
NM_001009944.2:c.12285G>C	NP_001009944.2:p.Leu4095=
XM_005255370.2:c.9240G>C	XP_005255427.1:p.Leu3080=
XM_011522525.1:c.12363G>C	XP_011520827.1:p.Leu4121=
XM_011522526.1:c.12360G>C	XP_011520828.1:p.Leu4120=
XM_011522527.1:c.12345G>C	XP_011520829.1:p.Leu4115=
XM_011522528.1:c.12339G>C	XP_011520830.1:p.Leu4113=
XM_011522529.1:c.12336G>C	XP_011520831.1:p.Leu4112=
XM_011522530.1:c.12309G>C	XP_011520832.1:p.Leu4103=
XM_011522531.1:c.12291G>C	XP_011520833.1:p.Leu4097=
XM_011522532.1:c.12237G>C	XP_011520834.1:p.Leu4079=
XM_011522533.1:c.12156G>C	XP_011520835.1:p.Leu4052=
XM_011522534.1:c.12099G>C	XP_011520836.1:p.Leu4033=
XM_011522535.1:c.10185G>C	XP_011520837.1:p.Leu3395=
XM_011522537.1:c.9363G>C	XP_011520839.1:p.Leu3121=
XR_932867.1:n.12203G>C
XM_005255370.3:c.9240G>C	XP_005255427.1:p.Leu3080=
XM_011522528.3:c.12339G>C	XP_011520830.1:p.Leu4113=
XM_011522529.2:c.12336G>C	XP_011520831.1:p.Leu4112=
XM_011522537.2:c.9363G>C	XP_011520839.1:p.Leu3121=
XM_024450298.1:c.12405G>C	XP_024306066.1:p.Leu4135=
XM_024450299.1:c.12333G>C	XP_024306067.1:p.Leu4111=
XM_024450300.1:c.12195G>C	XP_024306068.1:p.Leu4065=
XM_024450301.1:c.10281G>C	XP_024306069.1:p.Leu3427=
NM_000296.4:c.12282G>C	NP_000287.4:p.Leu4094=
NM_001009944.3:c.12285G>C MANE Select	NP_001009944.3:p.Leu4095=