Canonical Allele Identifier: CA394377064

Gene: PKD1

Linked Data

• dbSNP Id: rs2092451627
• gnomAD v4: 16-2109732-G-A
• MyVariant Identifiers: chr16:g.2159733G>A (hg19) ; chr16:g.2109732G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5435C>T MANE Select	ENSP00000262304.4:p.Pro1812Leu
ENST00000262304.8:c.5435C>T	ENSP00000262304.4:p.Pro1812Leu
ENST00000415938.7:n.310+2608C>T
ENST00000423118.5:c.5435C>T	ENSP00000399501.1:p.Pro1812Leu
ENST00000468674.5:n.431-382C>T
ENST00000483024.1:c.233+2084C>T
ENST00000483731.5:n.790+2608C>T
ENST00000487932.5:c.122C>T	ENSP00000457132.1:p.Pro41Leu
ENST00000488185.2:c.473-1374C>T
ENST00000565639.6:n.773+2608C>T
ENST00000568591.5:c.2226+2608C>T	ENSP00000457162.1:n.2226+2608C>T
ENST00000569983.5:n.421+2608C>T
NM_000296.3:c.5435C>T	NP_000287.3:p.Pro1812Leu
NM_001009944.2:c.5435C>T	NP_001009944.2:p.Pro1812Leu
XM_005255370.2:c.2390C>T	XP_005255427.1:p.Pro797Leu
XM_011522525.1:c.5513C>T	XP_011520827.1:p.Pro1838Leu
XM_011522526.1:c.5513C>T	XP_011520828.1:p.Pro1838Leu
XM_011522527.1:c.5513C>T	XP_011520829.1:p.Pro1838Leu
XM_011522528.1:c.5489C>T	XP_011520830.1:p.Pro1830Leu
XM_011522529.1:c.5489C>T	XP_011520831.1:p.Pro1830Leu
XM_011522530.1:c.5459C>T	XP_011520832.1:p.Pro1820Leu
XM_011522531.1:c.5441C>T	XP_011520833.1:p.Pro1814Leu
XM_011522532.1:c.5387C>T	XP_011520834.1:p.Pro1796Leu
XM_011522533.1:c.5306C>T	XP_011520835.1:p.Pro1769Leu
XM_011522534.1:c.5249C>T	XP_011520836.1:p.Pro1750Leu
XM_011522535.1:c.3335C>T	XP_011520837.1:p.Pro1112Leu
XM_011522536.1:c.5513C>T	XP_011520838.1:p.Pro1838Leu
XM_011522537.1:c.2513C>T	XP_011520839.1:p.Pro838Leu
XR_932867.1:n.5528C>T
XR_932868.1:n.5528C>T
XR_932869.1:n.5528C>T
XR_932870.1:n.5528C>T
XM_005255370.3:c.2390C>T	XP_005255427.1:p.Pro797Leu
XM_011522528.3:c.5489C>T	XP_011520830.1:p.Pro1830Leu
XM_011522529.2:c.5489C>T	XP_011520831.1:p.Pro1830Leu
XM_011522537.2:c.2513C>T	XP_011520839.1:p.Pro838Leu
XM_024450298.1:c.5555C>T	XP_024306066.1:p.Pro1852Leu
XM_024450299.1:c.5483C>T	XP_024306067.1:p.Pro1828Leu
XM_024450300.1:c.5345C>T	XP_024306068.1:p.Pro1782Leu
XM_024450301.1:c.3431C>T	XP_024306069.1:p.Pro1144Leu
NM_000296.4:c.5435C>T	NP_000287.4:p.Pro1812Leu
NM_001009944.3:c.5435C>T MANE Select	NP_001009944.3:p.Pro1812Leu