Canonical Allele Identifier: CA7828479

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089874G>A , CM000678.2:g.2089874G>A	GRCh38
NC_000016.9:g.2139875G>A , CM000678.1:g.2139875G>A	GRCh37
NC_000016.8:g.2079876G>A	NCBI36
NG_005895.1:g.45569G>A , LRG_487:g.45569G>A
NG_008617.1:g.53347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12765C>T MANE Select	ENSP00000262304.4:p.Pro4255=
ENST00000262304.8:c.12765C>T	ENSP00000262304.4:p.Pro4255=
ENST00000423118.5:c.12762C>T	ENSP00000399501.1:p.Pro4254=
ENST00000472577.1:n.793C>T
NM_000296.3:c.12762C>T	NP_000287.3:p.Pro4254=
NM_001009944.2:c.12765C>T	NP_001009944.2:p.Pro4255=
XM_005255370.2:c.9720C>T	XP_005255427.1:p.Pro3240=
XM_011522525.1:c.12843C>T	XP_011520827.1:p.Pro4281=
XM_011522526.1:c.12840C>T	XP_011520828.1:p.Pro4280=
XM_011522527.1:c.12825C>T	XP_011520829.1:p.Pro4275=
XM_011522528.1:c.12819C>T	XP_011520830.1:p.Pro4273=
XM_011522529.1:c.12816C>T	XP_011520831.1:p.Pro4272=
XM_011522530.1:c.12789C>T	XP_011520832.1:p.Pro4263=
XM_011522531.1:c.12771C>T	XP_011520833.1:p.Pro4257=
XM_011522532.1:c.12717C>T	XP_011520834.1:p.Pro4239=
XM_011522533.1:c.12636C>T	XP_011520835.1:p.Pro4212=
XM_011522534.1:c.12579C>T	XP_011520836.1:p.Pro4193=
XM_011522535.1:c.10665C>T	XP_011520837.1:p.Pro3555=
XM_011522537.1:c.9843C>T	XP_011520839.1:p.Pro3281=
XM_005255370.3:c.9720C>T	XP_005255427.1:p.Pro3240=
XM_011522528.3:c.12819C>T	XP_011520830.1:p.Pro4273=
XM_011522529.2:c.12816C>T	XP_011520831.1:p.Pro4272=
XM_011522537.2:c.9843C>T	XP_011520839.1:p.Pro3281=
XM_024450298.1:c.12885C>T	XP_024306066.1:p.Pro4295=
XM_024450299.1:c.12813C>T	XP_024306067.1:p.Pro4271=
XM_024450300.1:c.12675C>T	XP_024306068.1:p.Pro4225=
XM_024450301.1:c.10761C>T	XP_024306069.1:p.Pro3587=
NM_000296.4:c.12762C>T	NP_000287.4:p.Pro4254=
NM_001009944.3:c.12765C>T MANE Select	NP_001009944.3:p.Pro4255=