Canonical Allele Identifier: CA2202041712

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090417A= , CM000678.2:g.2090417A=	GRCh38
NC_000016.9:g.2140418A= , CM000678.1:g.2140418A=	GRCh37
NC_000016.8:g.2080419A=	NCBI36
NG_005895.1:g.46112A= , LRG_487:g.46112A=
NG_008617.1:g.52804T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12312T= MANE Select	ENSP00000262304.4:p.Val4104=
ENST00000262304.8:c.12312T=	ENSP00000262304.4:p.Val4104=
ENST00000423118.5:c.12309T=	ENSP00000399501.1:p.Val4103=
ENST00000472577.1:n.340T=
NM_000296.3:c.12309T=	NP_000287.3:p.Val4103=
NM_001009944.2:c.12312T=	NP_001009944.2:p.Val4104=
XM_005255370.2:c.9267T=	XP_005255427.1:p.Val3089=
XM_011522525.1:c.12390T=	XP_011520827.1:p.Val4130=
XM_011522526.1:c.12387T=	XP_011520828.1:p.Val4129=
XM_011522527.1:c.12372T=	XP_011520829.1:p.Val4124=
XM_011522528.1:c.12366T=	XP_011520830.1:p.Val4122=
XM_011522529.1:c.12363T=	XP_011520831.1:p.Val4121=
XM_011522530.1:c.12336T=	XP_011520832.1:p.Val4112=
XM_011522531.1:c.12318T=	XP_011520833.1:p.Val4106=
XM_011522532.1:c.12264T=	XP_011520834.1:p.Val4088=
XM_011522533.1:c.12183T=	XP_011520835.1:p.Val4061=
XM_011522534.1:c.12126T=	XP_011520836.1:p.Val4042=
XM_011522535.1:c.10212T=	XP_011520837.1:p.Val3404=
XM_011522537.1:c.9390T=	XP_011520839.1:p.Val3130=
XR_932867.1:n.12230T=
XM_005255370.3:c.9267T=	XP_005255427.1:p.Val3089=
XM_011522528.3:c.12366T=	XP_011520830.1:p.Val4122=
XM_011522529.2:c.12363T=	XP_011520831.1:p.Val4121=
XM_011522537.2:c.9390T=	XP_011520839.1:p.Val3130=
XM_024450298.1:c.12432T=	XP_024306066.1:p.Val4144=
XM_024450299.1:c.12360T=	XP_024306067.1:p.Val4120=
XM_024450300.1:c.12222T=	XP_024306068.1:p.Val4074=
XM_024450301.1:c.10308T=	XP_024306069.1:p.Val3436=
NM_000296.4:c.12309T=	NP_000287.4:p.Val4103=
NM_001009944.3:c.12312T= MANE Select	NP_001009944.3:p.Val4104=