Canonical Allele Identifier: CA394319845

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089870C>G , CM000678.2:g.2089870C>G	GRCh38
NC_000016.9:g.2139871C>G , CM000678.1:g.2139871C>G	GRCh37
NC_000016.8:g.2079872C>G	NCBI36
NG_005895.1:g.45565C>G , LRG_487:g.45565C>G
NG_008617.1:g.53351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12769G>C MANE Select	ENSP00000262304.4:p.Gly4257Arg
ENST00000262304.8:c.12769G>C	ENSP00000262304.4:p.Gly4257Arg
ENST00000423118.5:c.12766G>C	ENSP00000399501.1:p.Gly4256Arg
ENST00000472577.1:n.797G>C
NM_000296.3:c.12766G>C	NP_000287.3:p.Gly4256Arg
NM_001009944.2:c.12769G>C	NP_001009944.2:p.Gly4257Arg
XM_005255370.2:c.9724G>C	XP_005255427.1:p.Gly3242Arg
XM_011522525.1:c.12847G>C	XP_011520827.1:p.Gly4283Arg
XM_011522526.1:c.12844G>C	XP_011520828.1:p.Gly4282Arg
XM_011522527.1:c.12829G>C	XP_011520829.1:p.Gly4277Arg
XM_011522528.1:c.12823G>C	XP_011520830.1:p.Gly4275Arg
XM_011522529.1:c.12820G>C	XP_011520831.1:p.Gly4274Arg
XM_011522530.1:c.12793G>C	XP_011520832.1:p.Gly4265Arg
XM_011522531.1:c.12775G>C	XP_011520833.1:p.Gly4259Arg
XM_011522532.1:c.12721G>C	XP_011520834.1:p.Gly4241Arg
XM_011522533.1:c.12640G>C	XP_011520835.1:p.Gly4214Arg
XM_011522534.1:c.12583G>C	XP_011520836.1:p.Gly4195Arg
XM_011522535.1:c.10669G>C	XP_011520837.1:p.Gly3557Arg
XM_011522537.1:c.9847G>C	XP_011520839.1:p.Gly3283Arg
XM_005255370.3:c.9724G>C	XP_005255427.1:p.Gly3242Arg
XM_011522528.3:c.12823G>C	XP_011520830.1:p.Gly4275Arg
XM_011522529.2:c.12820G>C	XP_011520831.1:p.Gly4274Arg
XM_011522537.2:c.9847G>C	XP_011520839.1:p.Gly3283Arg
XM_024450298.1:c.12889G>C	XP_024306066.1:p.Gly4297Arg
XM_024450299.1:c.12817G>C	XP_024306067.1:p.Gly4273Arg
XM_024450300.1:c.12679G>C	XP_024306068.1:p.Gly4227Arg
XM_024450301.1:c.10765G>C	XP_024306069.1:p.Gly3589Arg
NM_000296.4:c.12766G>C	NP_000287.4:p.Gly4256Arg
NM_001009944.3:c.12769G>C MANE Select	NP_001009944.3:p.Gly4257Arg