Canonical Allele Identifier: CA493047953

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159636G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109635G>C , CM000678.2:g.2109635G>C	GRCh38
NC_000016.9:g.2159636G>C , CM000678.1:g.2159636G>C	GRCh37
NC_000016.8:g.2099637G>C	NCBI36
NG_008617.1:g.31264C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5532C>G MANE Select	ENSP00000262304.4:p.Gly1844=
ENST00000262304.8:c.5532C>G	ENSP00000262304.4:p.Gly1844=
ENST00000415938.7:n.311-2687C>G
ENST00000423118.5:c.5532C>G	ENSP00000399501.1:p.Gly1844=
ENST00000468674.5:n.431-285C>G
ENST00000483024.1:c.233+2181C>G
ENST00000483731.5:n.791-2687C>G
ENST00000487932.5:c.219C>G	ENSP00000457132.1:p.Gly73=
ENST00000488185.2:c.473-1277C>G
ENST00000565639.6:n.774-2687C>G
ENST00000568591.5:c.2227-2687C>G	ENSP00000457162.1:n.2227-2687C>G
ENST00000569983.5:n.422-2687C>G
NM_000296.3:c.5532C>G	NP_000287.3:p.Gly1844=
NM_001009944.2:c.5532C>G	NP_001009944.2:p.Gly1844=
XM_005255370.2:c.2487C>G	XP_005255427.1:p.Gly829=
XM_011522525.1:c.5610C>G	XP_011520827.1:p.Gly1870=
XM_011522526.1:c.5610C>G	XP_011520828.1:p.Gly1870=
XM_011522527.1:c.5610C>G	XP_011520829.1:p.Gly1870=
XM_011522528.1:c.5586C>G	XP_011520830.1:p.Gly1862=
XM_011522529.1:c.5586C>G	XP_011520831.1:p.Gly1862=
XM_011522530.1:c.5556C>G	XP_011520832.1:p.Gly1852=
XM_011522531.1:c.5538C>G	XP_011520833.1:p.Gly1846=
XM_011522532.1:c.5484C>G	XP_011520834.1:p.Gly1828=
XM_011522533.1:c.5403C>G	XP_011520835.1:p.Gly1801=
XM_011522534.1:c.5346C>G	XP_011520836.1:p.Gly1782=
XM_011522535.1:c.3432C>G	XP_011520837.1:p.Gly1144=
XM_011522536.1:c.5610C>G	XP_011520838.1:p.Gly1870=
XM_011522537.1:c.2610C>G	XP_011520839.1:p.Gly870=
XR_932867.1:n.5625C>G
XR_932868.1:n.5625C>G
XR_932869.1:n.5625C>G
XR_932870.1:n.5625C>G
XM_005255370.3:c.2487C>G	XP_005255427.1:p.Gly829=
XM_011522528.3:c.5586C>G	XP_011520830.1:p.Gly1862=
XM_011522529.2:c.5586C>G	XP_011520831.1:p.Gly1862=
XM_011522537.2:c.2610C>G	XP_011520839.1:p.Gly870=
XM_024450298.1:c.5652C>G	XP_024306066.1:p.Gly1884=
XM_024450299.1:c.5580C>G	XP_024306067.1:p.Gly1860=
XM_024450300.1:c.5442C>G	XP_024306068.1:p.Gly1814=
XM_024450301.1:c.3528C>G	XP_024306069.1:p.Gly1176=
NM_000296.4:c.5532C>G	NP_000287.4:p.Gly1844=
NM_001009944.3:c.5532C>G MANE Select	NP_001009944.3:p.Gly1844=