Canonical Allele Identifier: CA394377066

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159733G>C (hg19) ; chr16:g.2109732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109732G>C , CM000678.2:g.2109732G>C	GRCh38
NC_000016.9:g.2159733G>C , CM000678.1:g.2159733G>C	GRCh37
NC_000016.8:g.2099734G>C	NCBI36
NG_008617.1:g.31167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5435C>G MANE Select	ENSP00000262304.4:p.Pro1812Arg
ENST00000262304.8:c.5435C>G	ENSP00000262304.4:p.Pro1812Arg
ENST00000415938.7:n.310+2608C>G
ENST00000423118.5:c.5435C>G	ENSP00000399501.1:p.Pro1812Arg
ENST00000468674.5:n.431-382C>G
ENST00000483024.1:c.233+2084C>G
ENST00000483731.5:n.790+2608C>G
ENST00000487932.5:c.122C>G	ENSP00000457132.1:p.Pro41Arg
ENST00000488185.2:c.473-1374C>G
ENST00000565639.6:n.773+2608C>G
ENST00000568591.5:c.2226+2608C>G	ENSP00000457162.1:n.2226+2608C>G
ENST00000569983.5:n.421+2608C>G
NM_000296.3:c.5435C>G	NP_000287.3:p.Pro1812Arg
NM_001009944.2:c.5435C>G	NP_001009944.2:p.Pro1812Arg
XM_005255370.2:c.2390C>G	XP_005255427.1:p.Pro797Arg
XM_011522525.1:c.5513C>G	XP_011520827.1:p.Pro1838Arg
XM_011522526.1:c.5513C>G	XP_011520828.1:p.Pro1838Arg
XM_011522527.1:c.5513C>G	XP_011520829.1:p.Pro1838Arg
XM_011522528.1:c.5489C>G	XP_011520830.1:p.Pro1830Arg
XM_011522529.1:c.5489C>G	XP_011520831.1:p.Pro1830Arg
XM_011522530.1:c.5459C>G	XP_011520832.1:p.Pro1820Arg
XM_011522531.1:c.5441C>G	XP_011520833.1:p.Pro1814Arg
XM_011522532.1:c.5387C>G	XP_011520834.1:p.Pro1796Arg
XM_011522533.1:c.5306C>G	XP_011520835.1:p.Pro1769Arg
XM_011522534.1:c.5249C>G	XP_011520836.1:p.Pro1750Arg
XM_011522535.1:c.3335C>G	XP_011520837.1:p.Pro1112Arg
XM_011522536.1:c.5513C>G	XP_011520838.1:p.Pro1838Arg
XM_011522537.1:c.2513C>G	XP_011520839.1:p.Pro838Arg
XR_932867.1:n.5528C>G
XR_932868.1:n.5528C>G
XR_932869.1:n.5528C>G
XR_932870.1:n.5528C>G
XM_005255370.3:c.2390C>G	XP_005255427.1:p.Pro797Arg
XM_011522528.3:c.5489C>G	XP_011520830.1:p.Pro1830Arg
XM_011522529.2:c.5489C>G	XP_011520831.1:p.Pro1830Arg
XM_011522537.2:c.2513C>G	XP_011520839.1:p.Pro838Arg
XM_024450298.1:c.5555C>G	XP_024306066.1:p.Pro1852Arg
XM_024450299.1:c.5483C>G	XP_024306067.1:p.Pro1828Arg
XM_024450300.1:c.5345C>G	XP_024306068.1:p.Pro1782Arg
XM_024450301.1:c.3431C>G	XP_024306069.1:p.Pro1144Arg
NM_000296.4:c.5435C>G	NP_000287.4:p.Pro1812Arg
NM_001009944.3:c.5435C>G MANE Select	NP_001009944.3:p.Pro1812Arg