Canonical Allele Identifier: CA394321391

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089992T>C , CM000678.2:g.2089992T>C	GRCh38
NC_000016.9:g.2139993T>C , CM000678.1:g.2139993T>C	GRCh37
NC_000016.8:g.2079994T>C	NCBI36
NG_005895.1:g.45687T>C , LRG_487:g.45687T>C
NG_008617.1:g.53229A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.12647A>G MANE Select	NP_001009944.3:p.Gln4216Arg
ENST00000262304.9:c.12647A>G MANE Select	ENSP00000262304.4:p.Gln4216Arg
NM_000296.3:c.12644A>G	NP_000287.3:p.Gln4215Arg
NM_000296.4:c.12644A>G	NP_000287.4:p.Gln4215Arg
NM_001009944.2:c.12647A>G	NP_001009944.2:p.Gln4216Arg
ENST00000262304.8:c.12647A>G	ENSP00000262304.4:p.Gln4216Arg
ENST00000423118.5:c.12644A>G	ENSP00000399501.1:p.Gln4215Arg
ENST00000472577.1:n.675A>G
XM_005255370.2:c.9602A>G	XP_005255427.1:p.Gln3201Arg
XM_005255370.3:c.9602A>G	XP_005255427.1:p.Gln3201Arg
XM_011522525.1:c.12725A>G	XP_011520827.1:p.Gln4242Arg
XM_011522526.1:c.12722A>G	XP_011520828.1:p.Gln4241Arg
XM_011522527.1:c.12707A>G	XP_011520829.1:p.Gln4236Arg
XM_011522528.1:c.12701A>G	XP_011520830.1:p.Gln4234Arg
XM_011522528.3:c.12701A>G	XP_011520830.1:p.Gln4234Arg
XM_011522529.1:c.12698A>G	XP_011520831.1:p.Gln4233Arg
XM_011522529.2:c.12698A>G	XP_011520831.1:p.Gln4233Arg
XM_011522530.1:c.12671A>G	XP_011520832.1:p.Gln4224Arg
XM_011522531.1:c.12653A>G	XP_011520833.1:p.Gln4218Arg
XM_011522532.1:c.12599A>G	XP_011520834.1:p.Gln4200Arg
XM_011522533.1:c.12518A>G	XP_011520835.1:p.Gln4173Arg
XM_011522534.1:c.12461A>G	XP_011520836.1:p.Gln4154Arg
XM_011522535.1:c.10547A>G	XP_011520837.1:p.Gln3516Arg
XM_011522537.1:c.9725A>G	XP_011520839.1:p.Gln3242Arg
XM_011522537.2:c.9725A>G	XP_011520839.1:p.Gln3242Arg
XM_024450298.1:c.12767A>G	XP_024306066.1:p.Gln4256Arg
XM_024450299.1:c.12695A>G	XP_024306067.1:p.Gln4232Arg
XM_024450300.1:c.12557A>G	XP_024306068.1:p.Gln4186Arg
XM_024450301.1:c.10643A>G	XP_024306069.1:p.Gln3548Arg
XR_932867.1:n.12565A>G