Canonical Allele Identifier: CA493047936

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159624A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109623A>G , CM000678.2:g.2109623A>G	GRCh38
NC_000016.9:g.2159624A>G , CM000678.1:g.2159624A>G	GRCh37
NC_000016.8:g.2099625A>G	NCBI36
NG_008617.1:g.31276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5544T>C MANE Select	ENSP00000262304.4:p.Arg1848=
ENST00000262304.8:c.5544T>C	ENSP00000262304.4:p.Arg1848=
ENST00000415938.7:n.311-2675T>C
ENST00000423118.5:c.5544T>C	ENSP00000399501.1:p.Arg1848=
ENST00000468674.5:n.431-273T>C
ENST00000483024.1:c.233+2193T>C
ENST00000483731.5:n.791-2675T>C
ENST00000487932.5:c.231T>C	ENSP00000457132.1:p.Arg77=
ENST00000488185.2:c.473-1265T>C
ENST00000565639.6:n.774-2675T>C
ENST00000568591.5:c.2227-2675T>C	ENSP00000457162.1:n.2227-2675T>C
ENST00000569983.5:n.422-2675T>C
NM_000296.3:c.5544T>C	NP_000287.3:p.Arg1848=
NM_001009944.2:c.5544T>C	NP_001009944.2:p.Arg1848=
XM_005255370.2:c.2499T>C	XP_005255427.1:p.Arg833=
XM_011522525.1:c.5622T>C	XP_011520827.1:p.Arg1874=
XM_011522526.1:c.5622T>C	XP_011520828.1:p.Arg1874=
XM_011522527.1:c.5622T>C	XP_011520829.1:p.Arg1874=
XM_011522528.1:c.5598T>C	XP_011520830.1:p.Arg1866=
XM_011522529.1:c.5598T>C	XP_011520831.1:p.Arg1866=
XM_011522530.1:c.5568T>C	XP_011520832.1:p.Arg1856=
XM_011522531.1:c.5550T>C	XP_011520833.1:p.Arg1850=
XM_011522532.1:c.5496T>C	XP_011520834.1:p.Arg1832=
XM_011522533.1:c.5415T>C	XP_011520835.1:p.Arg1805=
XM_011522534.1:c.5358T>C	XP_011520836.1:p.Arg1786=
XM_011522535.1:c.3444T>C	XP_011520837.1:p.Arg1148=
XM_011522536.1:c.5622T>C	XP_011520838.1:p.Arg1874=
XM_011522537.1:c.2622T>C	XP_011520839.1:p.Arg874=
XR_932867.1:n.5637T>C
XR_932868.1:n.5637T>C
XR_932869.1:n.5637T>C
XR_932870.1:n.5637T>C
XM_005255370.3:c.2499T>C	XP_005255427.1:p.Arg833=
XM_011522528.3:c.5598T>C	XP_011520830.1:p.Arg1866=
XM_011522529.2:c.5598T>C	XP_011520831.1:p.Arg1866=
XM_011522537.2:c.2622T>C	XP_011520839.1:p.Arg874=
XM_024450298.1:c.5664T>C	XP_024306066.1:p.Arg1888=
XM_024450299.1:c.5592T>C	XP_024306067.1:p.Arg1864=
XM_024450300.1:c.5454T>C	XP_024306068.1:p.Arg1818=
XM_024450301.1:c.3540T>C	XP_024306069.1:p.Arg1180=
NM_000296.4:c.5544T>C	NP_000287.4:p.Arg1848=
NM_001009944.3:c.5544T>C MANE Select	NP_001009944.3:p.Arg1848=