Canonical Allele Identifier: CA394325723

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140446A>C (hg19) ; chr16:g.2090445A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090445A>C , CM000678.2:g.2090445A>C	GRCh38
NC_000016.9:g.2140446A>C , CM000678.1:g.2140446A>C	GRCh37
NC_000016.8:g.2080447A>C	NCBI36
NG_005895.1:g.46140A>C , LRG_487:g.46140A>C
NG_008617.1:g.52776T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12284T>G MANE Select	ENSP00000262304.4:p.Leu4095Arg
ENST00000262304.8:c.12284T>G	ENSP00000262304.4:p.Leu4095Arg
ENST00000423118.5:c.12281T>G	ENSP00000399501.1:p.Leu4094Arg
ENST00000472577.1:n.312T>G
NM_000296.3:c.12281T>G	NP_000287.3:p.Leu4094Arg
NM_001009944.2:c.12284T>G	NP_001009944.2:p.Leu4095Arg
XM_005255370.2:c.9239T>G	XP_005255427.1:p.Leu3080Arg
XM_011522525.1:c.12362T>G	XP_011520827.1:p.Leu4121Arg
XM_011522526.1:c.12359T>G	XP_011520828.1:p.Leu4120Arg
XM_011522527.1:c.12344T>G	XP_011520829.1:p.Leu4115Arg
XM_011522528.1:c.12338T>G	XP_011520830.1:p.Leu4113Arg
XM_011522529.1:c.12335T>G	XP_011520831.1:p.Leu4112Arg
XM_011522530.1:c.12308T>G	XP_011520832.1:p.Leu4103Arg
XM_011522531.1:c.12290T>G	XP_011520833.1:p.Leu4097Arg
XM_011522532.1:c.12236T>G	XP_011520834.1:p.Leu4079Arg
XM_011522533.1:c.12155T>G	XP_011520835.1:p.Leu4052Arg
XM_011522534.1:c.12098T>G	XP_011520836.1:p.Leu4033Arg
XM_011522535.1:c.10184T>G	XP_011520837.1:p.Leu3395Arg
XM_011522537.1:c.9362T>G	XP_011520839.1:p.Leu3121Arg
XR_932867.1:n.12202T>G
XM_005255370.3:c.9239T>G	XP_005255427.1:p.Leu3080Arg
XM_011522528.3:c.12338T>G	XP_011520830.1:p.Leu4113Arg
XM_011522529.2:c.12335T>G	XP_011520831.1:p.Leu4112Arg
XM_011522537.2:c.9362T>G	XP_011520839.1:p.Leu3121Arg
XM_024450298.1:c.12404T>G	XP_024306066.1:p.Leu4135Arg
XM_024450299.1:c.12332T>G	XP_024306067.1:p.Leu4111Arg
XM_024450300.1:c.12194T>G	XP_024306068.1:p.Leu4065Arg
XM_024450301.1:c.10280T>G	XP_024306069.1:p.Leu3427Arg
NM_000296.4:c.12281T>G	NP_000287.4:p.Leu4094Arg
NM_001009944.3:c.12284T>G MANE Select	NP_001009944.3:p.Leu4095Arg