Canonical Allele Identifier: CA2202047663

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111544A= , CM000678.2:g.2111544A=	GRCh38
NC_000016.9:g.2161545A= , CM000678.1:g.2161545A=	GRCh37
NC_000016.8:g.2101546A=	NCBI36
NG_008617.1:g.29355T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3623T= MANE Select	ENSP00000262304.4:p.Val1208=
ENST00000262304.8:c.3623T=	ENSP00000262304.4:p.Val1208=
ENST00000415938.7:n.310+796T=
ENST00000423118.5:c.3623T=	ENSP00000399501.1:p.Val1208=
ENST00000468674.5:n.430+796T=
ENST00000469241.2:n.573T=
ENST00000483024.1:c.233+272T=
ENST00000483731.5:n.790+796T=
ENST00000488185.2:c.473-3186T=
ENST00000565639.6:n.773+796T=
ENST00000568591.5:c.2226+796T=	ENSP00000457162.1:n.2226+796T=
ENST00000569983.5:n.421+796T=
NM_000296.3:c.3623T=	NP_000287.3:p.Val1208=
NM_001009944.2:c.3623T=	NP_001009944.2:p.Val1208=
XM_005255370.2:c.578T=	XP_005255427.1:p.Val193=
XM_011522525.1:c.3701T=	XP_011520827.1:p.Val1234=
XM_011522526.1:c.3701T=	XP_011520828.1:p.Val1234=
XM_011522527.1:c.3701T=	XP_011520829.1:p.Val1234=
XM_011522528.1:c.3677T=	XP_011520830.1:p.Val1226=
XM_011522529.1:c.3677T=	XP_011520831.1:p.Val1226=
XM_011522530.1:c.3647T=	XP_011520832.1:p.Val1216=
XM_011522531.1:c.3629T=	XP_011520833.1:p.Val1210=
XM_011522532.1:c.3575T=	XP_011520834.1:p.Val1192=
XM_011522533.1:c.3494T=	XP_011520835.1:p.Val1165=
XM_011522534.1:c.3437T=	XP_011520836.1:p.Val1146=
XM_011522535.1:c.1523T=	XP_011520837.1:p.Val508=
XM_011522536.1:c.3701T=	XP_011520838.1:p.Val1234=
XM_011522537.1:c.701T=	XP_011520839.1:p.Val234=
XR_932867.1:n.3716T=
XR_932868.1:n.3716T=
XR_932869.1:n.3716T=
XR_932870.1:n.3716T=
XM_005255370.3:c.578T=	XP_005255427.1:p.Val193=
XM_011522528.3:c.3677T=	XP_011520830.1:p.Val1226=
XM_011522529.2:c.3677T=	XP_011520831.1:p.Val1226=
XM_011522537.2:c.701T=	XP_011520839.1:p.Val234=
XM_024450298.1:c.3743T=	XP_024306066.1:p.Val1248=
XM_024450299.1:c.3671T=	XP_024306067.1:p.Val1224=
XM_024450300.1:c.3533T=	XP_024306068.1:p.Val1178=
XM_024450301.1:c.1619T=	XP_024306069.1:p.Val540=
NM_000296.4:c.3623T=	NP_000287.4:p.Val1208=
NM_001009944.3:c.3623T= MANE Select	NP_001009944.3:p.Val1208=