Canonical Allele Identifier: CA2202041666

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090404G= , CM000678.2:g.2090404G=	GRCh38
NC_000016.9:g.2140405G= , CM000678.1:g.2140405G=	GRCh37
NC_000016.8:g.2080406G=	NCBI36
NG_005895.1:g.46099G= , LRG_487:g.46099G=
NG_008617.1:g.52817C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12325C= MANE Select	ENSP00000262304.4:p.Arg4109=
ENST00000262304.8:c.12325C=	ENSP00000262304.4:p.Arg4109=
ENST00000423118.5:c.12322C=	ENSP00000399501.1:p.Arg4108=
ENST00000472577.1:n.353C=
NM_000296.3:c.12322C=	NP_000287.3:p.Arg4108=
NM_001009944.2:c.12325C=	NP_001009944.2:p.Arg4109=
XM_005255370.2:c.9280C=	XP_005255427.1:p.Arg3094=
XM_011522525.1:c.12403C=	XP_011520827.1:p.Arg4135=
XM_011522526.1:c.12400C=	XP_011520828.1:p.Arg4134=
XM_011522527.1:c.12385C=	XP_011520829.1:p.Arg4129=
XM_011522528.1:c.12379C=	XP_011520830.1:p.Arg4127=
XM_011522529.1:c.12376C=	XP_011520831.1:p.Arg4126=
XM_011522530.1:c.12349C=	XP_011520832.1:p.Arg4117=
XM_011522531.1:c.12331C=	XP_011520833.1:p.Arg4111=
XM_011522532.1:c.12277C=	XP_011520834.1:p.Arg4093=
XM_011522533.1:c.12196C=	XP_011520835.1:p.Arg4066=
XM_011522534.1:c.12139C=	XP_011520836.1:p.Arg4047=
XM_011522535.1:c.10225C=	XP_011520837.1:p.Arg3409=
XM_011522537.1:c.9403C=	XP_011520839.1:p.Arg3135=
XR_932867.1:n.12243C=
XM_005255370.3:c.9280C=	XP_005255427.1:p.Arg3094=
XM_011522528.3:c.12379C=	XP_011520830.1:p.Arg4127=
XM_011522529.2:c.12376C=	XP_011520831.1:p.Arg4126=
XM_011522537.2:c.9403C=	XP_011520839.1:p.Arg3135=
XM_024450298.1:c.12445C=	XP_024306066.1:p.Arg4149=
XM_024450299.1:c.12373C=	XP_024306067.1:p.Arg4125=
XM_024450300.1:c.12235C=	XP_024306068.1:p.Arg4079=
XM_024450301.1:c.10321C=	XP_024306069.1:p.Arg3441=
NM_000296.4:c.12322C=	NP_000287.4:p.Arg4108=
NM_001009944.3:c.12325C= MANE Select	NP_001009944.3:p.Arg4109=