Canonical Allele Identifier: CA2202047766

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111683C= , CM000678.2:g.2111683C=	GRCh38
NC_000016.9:g.2161684C= , CM000678.1:g.2161684C=	GRCh37
NC_000016.8:g.2101685C=	NCBI36
NG_008617.1:g.29216G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3484G= MANE Select	ENSP00000262304.4:p.Asp1162=
ENST00000262304.8:c.3484G=	ENSP00000262304.4:p.Asp1162=
ENST00000415938.7:n.310+657G=
ENST00000423118.5:c.3484G=	ENSP00000399501.1:p.Asp1162=
ENST00000468674.5:n.430+657G=
ENST00000469241.2:n.434G=
ENST00000483024.1:c.233+133G=
ENST00000483731.5:n.790+657G=
ENST00000488185.2:c.473-3325G=
ENST00000565639.6:n.773+657G=
ENST00000568591.5:c.2226+657G=	ENSP00000457162.1:n.2226+657G=
ENST00000569983.5:n.421+657G=
NM_000296.3:c.3484G=	NP_000287.3:p.Asp1162=
NM_001009944.2:c.3484G=	NP_001009944.2:p.Asp1162=
XM_005255370.2:c.439G=	XP_005255427.1:p.Asp147=
XM_011522525.1:c.3562G=	XP_011520827.1:p.Asp1188=
XM_011522526.1:c.3562G=	XP_011520828.1:p.Asp1188=
XM_011522527.1:c.3562G=	XP_011520829.1:p.Asp1188=
XM_011522528.1:c.3538G=	XP_011520830.1:p.Asp1180=
XM_011522529.1:c.3538G=	XP_011520831.1:p.Asp1180=
XM_011522530.1:c.3508G=	XP_011520832.1:p.Asp1170=
XM_011522531.1:c.3490G=	XP_011520833.1:p.Asp1164=
XM_011522532.1:c.3436G=	XP_011520834.1:p.Asp1146=
XM_011522533.1:c.3355G=	XP_011520835.1:p.Asp1119=
XM_011522534.1:c.3298G=	XP_011520836.1:p.Asp1100=
XM_011522535.1:c.1384G=	XP_011520837.1:p.Asp462=
XM_011522536.1:c.3562G=	XP_011520838.1:p.Asp1188=
XM_011522537.1:c.562G=	XP_011520839.1:p.Asp188=
XR_932867.1:n.3577G=
XR_932868.1:n.3577G=
XR_932869.1:n.3577G=
XR_932870.1:n.3577G=
XM_005255370.3:c.439G=	XP_005255427.1:p.Asp147=
XM_011522528.3:c.3538G=	XP_011520830.1:p.Asp1180=
XM_011522529.2:c.3538G=	XP_011520831.1:p.Asp1180=
XM_011522537.2:c.562G=	XP_011520839.1:p.Asp188=
XM_024450298.1:c.3604G=	XP_024306066.1:p.Asp1202=
XM_024450299.1:c.3532G=	XP_024306067.1:p.Asp1178=
XM_024450300.1:c.3394G=	XP_024306068.1:p.Asp1132=
XM_024450301.1:c.1480G=	XP_024306069.1:p.Asp494=
NM_000296.4:c.3484G=	NP_000287.4:p.Asp1162=
NM_001009944.3:c.3484G= MANE Select	NP_001009944.3:p.Asp1162=