Canonical Allele Identifier: CA7828452

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089813G>A , CM000678.2:g.2089813G>A	GRCh38
NC_000016.9:g.2139814G>A , CM000678.1:g.2139814G>A	GRCh37
NC_000016.8:g.2079815G>A	NCBI36
NG_005895.1:g.45508G>A , LRG_487:g.45508G>A
NG_008617.1:g.53408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12826C>T MANE Select	ENSP00000262304.4:p.Arg4276Trp
ENST00000262304.8:c.12826C>T	ENSP00000262304.4:p.Arg4276Trp
ENST00000423118.5:c.12823C>T	ENSP00000399501.1:p.Arg4275Trp
ENST00000472577.1:n.854C>T
NM_000296.3:c.12823C>T	NP_000287.3:p.Arg4275Trp
NM_001009944.2:c.12826C>T	NP_001009944.2:p.Arg4276Trp
XM_005255370.2:c.9781C>T	XP_005255427.1:p.Arg3261Trp
XM_011522525.1:c.12904C>T	XP_011520827.1:p.Arg4302Trp
XM_011522526.1:c.12901C>T	XP_011520828.1:p.Arg4301Trp
XM_011522527.1:c.12886C>T	XP_011520829.1:p.Arg4296Trp
XM_011522528.1:c.12880C>T	XP_011520830.1:p.Arg4294Trp
XM_011522529.1:c.12877C>T	XP_011520831.1:p.Arg4293Trp
XM_011522530.1:c.12850C>T	XP_011520832.1:p.Arg4284Trp
XM_011522531.1:c.12832C>T	XP_011520833.1:p.Arg4278Trp
XM_011522532.1:c.12778C>T	XP_011520834.1:p.Arg4260Trp
XM_011522533.1:c.12697C>T	XP_011520835.1:p.Arg4233Trp
XM_011522534.1:c.12640C>T	XP_011520836.1:p.Arg4214Trp
XM_011522535.1:c.10726C>T	XP_011520837.1:p.Arg3576Trp
XM_011522537.1:c.9904C>T	XP_011520839.1:p.Arg3302Trp
XM_005255370.3:c.9781C>T	XP_005255427.1:p.Arg3261Trp
XM_011522528.3:c.12880C>T	XP_011520830.1:p.Arg4294Trp
XM_011522529.2:c.12877C>T	XP_011520831.1:p.Arg4293Trp
XM_011522537.2:c.9904C>T	XP_011520839.1:p.Arg3302Trp
XM_024450298.1:c.12946C>T	XP_024306066.1:p.Arg4316Trp
XM_024450299.1:c.12874C>T	XP_024306067.1:p.Arg4292Trp
XM_024450300.1:c.12736C>T	XP_024306068.1:p.Arg4246Trp
XM_024450301.1:c.10822C>T	XP_024306069.1:p.Arg3608Trp
NM_000296.4:c.12823C>T	NP_000287.4:p.Arg4275Trp
NM_001009944.3:c.12826C>T MANE Select	NP_001009944.3:p.Arg4276Trp