Canonical Allele Identifier: CA2202041534

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090370G= , CM000678.2:g.2090370G=	GRCh38
NC_000016.9:g.2140371G= , CM000678.1:g.2140371G=	GRCh37
NC_000016.8:g.2080372G=	NCBI36
NG_005895.1:g.46065G= , LRG_487:g.46065G=
NG_008617.1:g.52851C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12359C= MANE Select	ENSP00000262304.4:p.Pro4120=
ENST00000262304.8:c.12359C=	ENSP00000262304.4:p.Pro4120=
ENST00000423118.5:c.12356C=	ENSP00000399501.1:p.Pro4119=
ENST00000472577.1:n.387C=
NM_000296.3:c.12356C=	NP_000287.3:p.Pro4119=
NM_001009944.2:c.12359C=	NP_001009944.2:p.Pro4120=
XM_005255370.2:c.9314C=	XP_005255427.1:p.Pro3105=
XM_011522525.1:c.12437C=	XP_011520827.1:p.Pro4146=
XM_011522526.1:c.12434C=	XP_011520828.1:p.Pro4145=
XM_011522527.1:c.12419C=	XP_011520829.1:p.Pro4140=
XM_011522528.1:c.12413C=	XP_011520830.1:p.Pro4138=
XM_011522529.1:c.12410C=	XP_011520831.1:p.Pro4137=
XM_011522530.1:c.12383C=	XP_011520832.1:p.Pro4128=
XM_011522531.1:c.12365C=	XP_011520833.1:p.Pro4122=
XM_011522532.1:c.12311C=	XP_011520834.1:p.Pro4104=
XM_011522533.1:c.12230C=	XP_011520835.1:p.Pro4077=
XM_011522534.1:c.12173C=	XP_011520836.1:p.Pro4058=
XM_011522535.1:c.10259C=	XP_011520837.1:p.Pro3420=
XM_011522537.1:c.9437C=	XP_011520839.1:p.Pro3146=
XR_932867.1:n.12277C=
XM_005255370.3:c.9314C=	XP_005255427.1:p.Pro3105=
XM_011522528.3:c.12413C=	XP_011520830.1:p.Pro4138=
XM_011522529.2:c.12410C=	XP_011520831.1:p.Pro4137=
XM_011522537.2:c.9437C=	XP_011520839.1:p.Pro3146=
XM_024450298.1:c.12479C=	XP_024306066.1:p.Pro4160=
XM_024450299.1:c.12407C=	XP_024306067.1:p.Pro4136=
XM_024450300.1:c.12269C=	XP_024306068.1:p.Pro4090=
XM_024450301.1:c.10355C=	XP_024306069.1:p.Pro3452=
NM_000296.4:c.12356C=	NP_000287.4:p.Pro4119=
NM_001009944.3:c.12359C= MANE Select	NP_001009944.3:p.Pro4120=