Canonical Allele Identifier: CA493044325

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140388A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090387A>G , CM000678.2:g.2090387A>G	GRCh38
NC_000016.9:g.2140388A>G , CM000678.1:g.2140388A>G	GRCh37
NC_000016.8:g.2080389A>G	NCBI36
NG_005895.1:g.46082A>G , LRG_487:g.46082A>G
NG_008617.1:g.52834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12342T>C MANE Select	ENSP00000262304.4:p.Arg4114=
ENST00000262304.8:c.12342T>C	ENSP00000262304.4:p.Arg4114=
ENST00000423118.5:c.12339T>C	ENSP00000399501.1:p.Arg4113=
ENST00000472577.1:n.370T>C
NM_000296.3:c.12339T>C	NP_000287.3:p.Arg4113=
NM_001009944.2:c.12342T>C	NP_001009944.2:p.Arg4114=
XM_005255370.2:c.9297T>C	XP_005255427.1:p.Arg3099=
XM_011522525.1:c.12420T>C	XP_011520827.1:p.Arg4140=
XM_011522526.1:c.12417T>C	XP_011520828.1:p.Arg4139=
XM_011522527.1:c.12402T>C	XP_011520829.1:p.Arg4134=
XM_011522528.1:c.12396T>C	XP_011520830.1:p.Arg4132=
XM_011522529.1:c.12393T>C	XP_011520831.1:p.Arg4131=
XM_011522530.1:c.12366T>C	XP_011520832.1:p.Arg4122=
XM_011522531.1:c.12348T>C	XP_011520833.1:p.Arg4116=
XM_011522532.1:c.12294T>C	XP_011520834.1:p.Arg4098=
XM_011522533.1:c.12213T>C	XP_011520835.1:p.Arg4071=
XM_011522534.1:c.12156T>C	XP_011520836.1:p.Arg4052=
XM_011522535.1:c.10242T>C	XP_011520837.1:p.Arg3414=
XM_011522537.1:c.9420T>C	XP_011520839.1:p.Arg3140=
XR_932867.1:n.12260T>C
XM_005255370.3:c.9297T>C	XP_005255427.1:p.Arg3099=
XM_011522528.3:c.12396T>C	XP_011520830.1:p.Arg4132=
XM_011522529.2:c.12393T>C	XP_011520831.1:p.Arg4131=
XM_011522537.2:c.9420T>C	XP_011520839.1:p.Arg3140=
XM_024450298.1:c.12462T>C	XP_024306066.1:p.Arg4154=
XM_024450299.1:c.12390T>C	XP_024306067.1:p.Arg4130=
XM_024450300.1:c.12252T>C	XP_024306068.1:p.Arg4084=
XM_024450301.1:c.10338T>C	XP_024306069.1:p.Arg3446=
NM_000296.4:c.12339T>C	NP_000287.4:p.Arg4113=
NM_001009944.3:c.12342T>C MANE Select	NP_001009944.3:p.Arg4114=