Canonical Allele Identifier: CA2202034776

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106518C= , CM000678.2:g.2106518C=	GRCh38
NC_000016.9:g.2156519C= , CM000678.1:g.2156519C=	GRCh37
NC_000016.8:g.2096520C=	NCBI36
NG_008617.1:g.34381G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7369G= MANE Select	ENSP00000262304.4:p.Glu2457=
ENST00000262304.8:c.7369G=	ENSP00000262304.4:p.Glu2457=
ENST00000415938.7:n.614G=
ENST00000423118.5:c.7369G=	ENSP00000399501.1:p.Glu2457=
ENST00000483558.5:n.428G=
ENST00000483731.5:n.1094G=
ENST00000486339.6:n.1115G=
ENST00000487932.5:c.2056G=	ENSP00000457132.1:p.Glu686=
ENST00000496574.6:n.1372G=
ENST00000565639.6:n.1077G=
ENST00000568591.5:c.2530G=	ENSP00000457162.1:n.2530G=
NM_000296.3:c.7369G=	NP_000287.3:p.Glu2457=
NM_001009944.2:c.7369G=	NP_001009944.2:p.Glu2457=
XM_005255370.2:c.4324G=	XP_005255427.1:p.Glu1442=
XM_011522525.1:c.7447G=	XP_011520827.1:p.Glu2483=
XM_011522526.1:c.7447G=	XP_011520828.1:p.Glu2483=
XM_011522527.1:c.7447G=	XP_011520829.1:p.Glu2483=
XM_011522528.1:c.7423G=	XP_011520830.1:p.Glu2475=
XM_011522529.1:c.7423G=	XP_011520831.1:p.Glu2475=
XM_011522530.1:c.7393G=	XP_011520832.1:p.Glu2465=
XM_011522531.1:c.7375G=	XP_011520833.1:p.Glu2459=
XM_011522532.1:c.7321G=	XP_011520834.1:p.Glu2441=
XM_011522533.1:c.7240G=	XP_011520835.1:p.Glu2414=
XM_011522534.1:c.7183G=	XP_011520836.1:p.Glu2395=
XM_011522535.1:c.5269G=	XP_011520837.1:p.Glu1757=
XM_011522536.1:c.7447G=	XP_011520838.1:p.Glu2483=
XM_011522537.1:c.4447G=	XP_011520839.1:p.Glu1483=
XR_932867.1:n.7462G=
XR_932868.1:n.7462G=
XR_932869.1:n.7462G=
XR_932870.1:n.7462G=
XM_005255370.3:c.4324G=	XP_005255427.1:p.Glu1442=
XM_011522528.3:c.7423G=	XP_011520830.1:p.Glu2475=
XM_011522529.2:c.7423G=	XP_011520831.1:p.Glu2475=
XM_011522537.2:c.4447G=	XP_011520839.1:p.Glu1483=
XM_024450298.1:c.7489G=	XP_024306066.1:p.Glu2497=
XM_024450299.1:c.7417G=	XP_024306067.1:p.Glu2473=
XM_024450300.1:c.7279G=	XP_024306068.1:p.Glu2427=
XM_024450301.1:c.5365G=	XP_024306069.1:p.Glu1789=
NM_000296.4:c.7369G=	NP_000287.4:p.Glu2457=
NM_001009944.3:c.7369G= MANE Select	NP_001009944.3:p.Glu2457=