Canonical Allele Identifier: CA394370199

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156561C>T (hg19) ; chr16:g.2106560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106560C>T , CM000678.2:g.2106560C>T	GRCh38
NC_000016.9:g.2156561C>T , CM000678.1:g.2156561C>T	GRCh37
NC_000016.8:g.2096562C>T	NCBI36
NG_008617.1:g.34339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7327G>A MANE Select	ENSP00000262304.4:p.Gly2443Arg
ENST00000262304.8:c.7327G>A	ENSP00000262304.4:p.Gly2443Arg
ENST00000415938.7:n.572G>A
ENST00000423118.5:c.7327G>A	ENSP00000399501.1:p.Gly2443Arg
ENST00000483558.5:n.386G>A
ENST00000483731.5:n.1052G>A
ENST00000486339.6:n.1073G>A
ENST00000487932.5:c.2014G>A	ENSP00000457132.1:p.Gly672Arg
ENST00000496574.6:n.1330G>A
ENST00000565639.6:n.1035G>A
ENST00000568591.5:c.2488G>A	ENSP00000457162.1:n.2488G>A
ENST00000569983.5:n.683G>A
NM_000296.3:c.7327G>A	NP_000287.3:p.Gly2443Arg
NM_001009944.2:c.7327G>A	NP_001009944.2:p.Gly2443Arg
XM_005255370.2:c.4282G>A	XP_005255427.1:p.Gly1428Arg
XM_011522525.1:c.7405G>A	XP_011520827.1:p.Gly2469Arg
XM_011522526.1:c.7405G>A	XP_011520828.1:p.Gly2469Arg
XM_011522527.1:c.7405G>A	XP_011520829.1:p.Gly2469Arg
XM_011522528.1:c.7381G>A	XP_011520830.1:p.Gly2461Arg
XM_011522529.1:c.7381G>A	XP_011520831.1:p.Gly2461Arg
XM_011522530.1:c.7351G>A	XP_011520832.1:p.Gly2451Arg
XM_011522531.1:c.7333G>A	XP_011520833.1:p.Gly2445Arg
XM_011522532.1:c.7279G>A	XP_011520834.1:p.Gly2427Arg
XM_011522533.1:c.7198G>A	XP_011520835.1:p.Gly2400Arg
XM_011522534.1:c.7141G>A	XP_011520836.1:p.Gly2381Arg
XM_011522535.1:c.5227G>A	XP_011520837.1:p.Gly1743Arg
XM_011522536.1:c.7405G>A	XP_011520838.1:p.Gly2469Arg
XM_011522537.1:c.4405G>A	XP_011520839.1:p.Gly1469Arg
XR_932867.1:n.7420G>A
XR_932868.1:n.7420G>A
XR_932869.1:n.7420G>A
XR_932870.1:n.7420G>A
XM_005255370.3:c.4282G>A	XP_005255427.1:p.Gly1428Arg
XM_011522528.3:c.7381G>A	XP_011520830.1:p.Gly2461Arg
XM_011522529.2:c.7381G>A	XP_011520831.1:p.Gly2461Arg
XM_011522537.2:c.4405G>A	XP_011520839.1:p.Gly1469Arg
XM_024450298.1:c.7447G>A	XP_024306066.1:p.Gly2483Arg
XM_024450299.1:c.7375G>A	XP_024306067.1:p.Gly2459Arg
XM_024450300.1:c.7237G>A	XP_024306068.1:p.Gly2413Arg
XM_024450301.1:c.5323G>A	XP_024306069.1:p.Gly1775Arg
NM_000296.4:c.7327G>A	NP_000287.4:p.Gly2443Arg
NM_001009944.3:c.7327G>A MANE Select	NP_001009944.3:p.Gly2443Arg