Canonical Allele Identifier: CA394369949

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156513C>G (hg19) ; chr16:g.2106512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106512C>G , CM000678.2:g.2106512C>G	GRCh38
NC_000016.9:g.2156513C>G , CM000678.1:g.2156513C>G	GRCh37
NC_000016.8:g.2096514C>G	NCBI36
NG_008617.1:g.34387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7375G>C MANE Select	ENSP00000262304.4:p.Gly2459Arg
ENST00000262304.8:c.7375G>C	ENSP00000262304.4:p.Gly2459Arg
ENST00000415938.7:n.620G>C
ENST00000423118.5:c.7375G>C	ENSP00000399501.1:p.Gly2459Arg
ENST00000483558.5:n.434G>C
ENST00000483731.5:n.1100G>C
ENST00000486339.6:n.1121G>C
ENST00000487932.5:c.2062G>C	ENSP00000457132.1:p.Gly688Arg
ENST00000496574.6:n.1378G>C
ENST00000565639.6:n.1083G>C
ENST00000568591.5:c.2536G>C	ENSP00000457162.1:n.2536G>C
NM_000296.3:c.7375G>C	NP_000287.3:p.Gly2459Arg
NM_001009944.2:c.7375G>C	NP_001009944.2:p.Gly2459Arg
XM_005255370.2:c.4330G>C	XP_005255427.1:p.Gly1444Arg
XM_011522525.1:c.7453G>C	XP_011520827.1:p.Gly2485Arg
XM_011522526.1:c.7453G>C	XP_011520828.1:p.Gly2485Arg
XM_011522527.1:c.7453G>C	XP_011520829.1:p.Gly2485Arg
XM_011522528.1:c.7429G>C	XP_011520830.1:p.Gly2477Arg
XM_011522529.1:c.7429G>C	XP_011520831.1:p.Gly2477Arg
XM_011522530.1:c.7399G>C	XP_011520832.1:p.Gly2467Arg
XM_011522531.1:c.7381G>C	XP_011520833.1:p.Gly2461Arg
XM_011522532.1:c.7327G>C	XP_011520834.1:p.Gly2443Arg
XM_011522533.1:c.7246G>C	XP_011520835.1:p.Gly2416Arg
XM_011522534.1:c.7189G>C	XP_011520836.1:p.Gly2397Arg
XM_011522535.1:c.5275G>C	XP_011520837.1:p.Gly1759Arg
XM_011522536.1:c.7453G>C	XP_011520838.1:p.Gly2485Arg
XM_011522537.1:c.4453G>C	XP_011520839.1:p.Gly1485Arg
XR_932867.1:n.7468G>C
XR_932868.1:n.7468G>C
XR_932869.1:n.7468G>C
XR_932870.1:n.7468G>C
XM_005255370.3:c.4330G>C	XP_005255427.1:p.Gly1444Arg
XM_011522528.3:c.7429G>C	XP_011520830.1:p.Gly2477Arg
XM_011522529.2:c.7429G>C	XP_011520831.1:p.Gly2477Arg
XM_011522537.2:c.4453G>C	XP_011520839.1:p.Gly1485Arg
XM_024450298.1:c.7495G>C	XP_024306066.1:p.Gly2499Arg
XM_024450299.1:c.7423G>C	XP_024306067.1:p.Gly2475Arg
XM_024450300.1:c.7285G>C	XP_024306068.1:p.Gly2429Arg
XM_024450301.1:c.5371G>C	XP_024306069.1:p.Gly1791Arg
NM_000296.4:c.7375G>C	NP_000287.4:p.Gly2459Arg
NM_001009944.3:c.7375G>C MANE Select	NP_001009944.3:p.Gly2459Arg