Canonical Allele Identifier: CA2202035046

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106572G= , CM000678.2:g.2106572G=	GRCh38
NC_000016.9:g.2156573G= , CM000678.1:g.2156573G=	GRCh37
NC_000016.8:g.2096574G=	NCBI36
NG_008617.1:g.34327C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7315C= MANE Select	ENSP00000262304.4:p.Arg2439=
ENST00000262304.8:c.7315C=	ENSP00000262304.4:p.Arg2439=
ENST00000415938.7:n.560C=
ENST00000423118.5:c.7315C=	ENSP00000399501.1:p.Arg2439=
ENST00000483558.5:n.374C=
ENST00000483731.5:n.1040C=
ENST00000486339.6:n.1061C=
ENST00000487932.5:c.2002C=	ENSP00000457132.1:p.Arg668=
ENST00000496574.6:n.1318C=
ENST00000565639.6:n.1023C=
ENST00000568591.5:c.2476C=	ENSP00000457162.1:n.2476C=
ENST00000569983.5:n.671C=
NM_000296.3:c.7315C=	NP_000287.3:p.Arg2439=
NM_001009944.2:c.7315C=	NP_001009944.2:p.Arg2439=
XM_005255370.2:c.4270C=	XP_005255427.1:p.Arg1424=
XM_011522525.1:c.7393C=	XP_011520827.1:p.Arg2465=
XM_011522526.1:c.7393C=	XP_011520828.1:p.Arg2465=
XM_011522527.1:c.7393C=	XP_011520829.1:p.Arg2465=
XM_011522528.1:c.7369C=	XP_011520830.1:p.Arg2457=
XM_011522529.1:c.7369C=	XP_011520831.1:p.Arg2457=
XM_011522530.1:c.7339C=	XP_011520832.1:p.Arg2447=
XM_011522531.1:c.7321C=	XP_011520833.1:p.Arg2441=
XM_011522532.1:c.7267C=	XP_011520834.1:p.Arg2423=
XM_011522533.1:c.7186C=	XP_011520835.1:p.Arg2396=
XM_011522534.1:c.7129C=	XP_011520836.1:p.Arg2377=
XM_011522535.1:c.5215C=	XP_011520837.1:p.Arg1739=
XM_011522536.1:c.7393C=	XP_011520838.1:p.Arg2465=
XM_011522537.1:c.4393C=	XP_011520839.1:p.Arg1465=
XR_932867.1:n.7408C=
XR_932868.1:n.7408C=
XR_932869.1:n.7408C=
XR_932870.1:n.7408C=
XM_005255370.3:c.4270C=	XP_005255427.1:p.Arg1424=
XM_011522528.3:c.7369C=	XP_011520830.1:p.Arg2457=
XM_011522529.2:c.7369C=	XP_011520831.1:p.Arg2457=
XM_011522537.2:c.4393C=	XP_011520839.1:p.Arg1465=
XM_024450298.1:c.7435C=	XP_024306066.1:p.Arg2479=
XM_024450299.1:c.7363C=	XP_024306067.1:p.Arg2455=
XM_024450300.1:c.7225C=	XP_024306068.1:p.Arg2409=
XM_024450301.1:c.5311C=	XP_024306069.1:p.Arg1771=
NM_000296.4:c.7315C=	NP_000287.4:p.Arg2439=
NM_001009944.3:c.7315C= MANE Select	NP_001009944.3:p.Arg2439=