Canonical Allele Identifier: CA7828448

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089803C>T , CM000678.2:g.2089803C>T	GRCh38
NC_000016.9:g.2139804C>T , CM000678.1:g.2139804C>T	GRCh37
NC_000016.8:g.2079805C>T	NCBI36
NG_005895.1:g.45498C>T , LRG_487:g.45498C>T
NG_008617.1:g.53418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12836G>A MANE Select	ENSP00000262304.4:p.Arg4279Gln
ENST00000262304.8:c.12836G>A	ENSP00000262304.4:p.Arg4279Gln
ENST00000423118.5:c.12833G>A	ENSP00000399501.1:p.Arg4278Gln
ENST00000472577.1:n.864G>A
NM_000296.3:c.12833G>A	NP_000287.3:p.Arg4278Gln
NM_001009944.2:c.12836G>A	NP_001009944.2:p.Arg4279Gln
XM_005255370.2:c.9791G>A	XP_005255427.1:p.Arg3264Gln
XM_011522525.1:c.12914G>A	XP_011520827.1:p.Arg4305Gln
XM_011522526.1:c.12911G>A	XP_011520828.1:p.Arg4304Gln
XM_011522527.1:c.12896G>A	XP_011520829.1:p.Arg4299Gln
XM_011522528.1:c.12890G>A	XP_011520830.1:p.Arg4297Gln
XM_011522529.1:c.12887G>A	XP_011520831.1:p.Arg4296Gln
XM_011522530.1:c.12860G>A	XP_011520832.1:p.Arg4287Gln
XM_011522531.1:c.12842G>A	XP_011520833.1:p.Arg4281Gln
XM_011522532.1:c.12788G>A	XP_011520834.1:p.Arg4263Gln
XM_011522533.1:c.12707G>A	XP_011520835.1:p.Arg4236Gln
XM_011522534.1:c.12650G>A	XP_011520836.1:p.Arg4217Gln
XM_011522535.1:c.10736G>A	XP_011520837.1:p.Arg3579Gln
XM_011522537.1:c.9914G>A	XP_011520839.1:p.Arg3305Gln
XM_005255370.3:c.9791G>A	XP_005255427.1:p.Arg3264Gln
XM_011522528.3:c.12890G>A	XP_011520830.1:p.Arg4297Gln
XM_011522529.2:c.12887G>A	XP_011520831.1:p.Arg4296Gln
XM_011522537.2:c.9914G>A	XP_011520839.1:p.Arg3305Gln
XM_024450298.1:c.12956G>A	XP_024306066.1:p.Arg4319Gln
XM_024450299.1:c.12884G>A	XP_024306067.1:p.Arg4295Gln
XM_024450300.1:c.12746G>A	XP_024306068.1:p.Arg4249Gln
XM_024450301.1:c.10832G>A	XP_024306069.1:p.Arg3611Gln
NM_000296.4:c.12833G>A	NP_000287.4:p.Arg4278Gln
NM_001009944.3:c.12836G>A MANE Select	NP_001009944.3:p.Arg4279Gln