Canonical Allele Identifier: CA394377050

Gene: PKD1

Linked Data

• gnomAD v4: 16-2109727-C-A
• MyVariant Identifiers: chr16:g.2159728C>A (hg19) ; chr16:g.2109727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109727C>A , CM000678.2:g.2109727C>A	GRCh38
NC_000016.9:g.2159728C>A , CM000678.1:g.2159728C>A	GRCh37
NC_000016.8:g.2099729C>A	NCBI36
NG_008617.1:g.31172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5440G>T MANE Select	ENSP00000262304.4:p.Gly1814Cys
ENST00000262304.8:c.5440G>T	ENSP00000262304.4:p.Gly1814Cys
ENST00000415938.7:n.310+2613G>T
ENST00000423118.5:c.5440G>T	ENSP00000399501.1:p.Gly1814Cys
ENST00000468674.5:n.431-377G>T
ENST00000483024.1:c.233+2089G>T
ENST00000483731.5:n.790+2613G>T
ENST00000487932.5:c.127G>T	ENSP00000457132.1:p.Gly43Cys
ENST00000488185.2:c.473-1369G>T
ENST00000565639.6:n.773+2613G>T
ENST00000568591.5:c.2226+2613G>T	ENSP00000457162.1:n.2226+2613G>T
ENST00000569983.5:n.421+2613G>T
NM_000296.3:c.5440G>T	NP_000287.3:p.Gly1814Cys
NM_001009944.2:c.5440G>T	NP_001009944.2:p.Gly1814Cys
XM_005255370.2:c.2395G>T	XP_005255427.1:p.Gly799Cys
XM_011522525.1:c.5518G>T	XP_011520827.1:p.Gly1840Cys
XM_011522526.1:c.5518G>T	XP_011520828.1:p.Gly1840Cys
XM_011522527.1:c.5518G>T	XP_011520829.1:p.Gly1840Cys
XM_011522528.1:c.5494G>T	XP_011520830.1:p.Gly1832Cys
XM_011522529.1:c.5494G>T	XP_011520831.1:p.Gly1832Cys
XM_011522530.1:c.5464G>T	XP_011520832.1:p.Gly1822Cys
XM_011522531.1:c.5446G>T	XP_011520833.1:p.Gly1816Cys
XM_011522532.1:c.5392G>T	XP_011520834.1:p.Gly1798Cys
XM_011522533.1:c.5311G>T	XP_011520835.1:p.Gly1771Cys
XM_011522534.1:c.5254G>T	XP_011520836.1:p.Gly1752Cys
XM_011522535.1:c.3340G>T	XP_011520837.1:p.Gly1114Cys
XM_011522536.1:c.5518G>T	XP_011520838.1:p.Gly1840Cys
XM_011522537.1:c.2518G>T	XP_011520839.1:p.Gly840Cys
XR_932867.1:n.5533G>T
XR_932868.1:n.5533G>T
XR_932869.1:n.5533G>T
XR_932870.1:n.5533G>T
XM_005255370.3:c.2395G>T	XP_005255427.1:p.Gly799Cys
XM_011522528.3:c.5494G>T	XP_011520830.1:p.Gly1832Cys
XM_011522529.2:c.5494G>T	XP_011520831.1:p.Gly1832Cys
XM_011522537.2:c.2518G>T	XP_011520839.1:p.Gly840Cys
XM_024450298.1:c.5560G>T	XP_024306066.1:p.Gly1854Cys
XM_024450299.1:c.5488G>T	XP_024306067.1:p.Gly1830Cys
XM_024450300.1:c.5350G>T	XP_024306068.1:p.Gly1784Cys
XM_024450301.1:c.3436G>T	XP_024306069.1:p.Gly1146Cys
NM_000296.4:c.5440G>T	NP_000287.4:p.Gly1814Cys
NM_001009944.3:c.5440G>T MANE Select	NP_001009944.3:p.Gly1814Cys