Canonical Allele Identifier: CA394371248

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156665C>G (hg19) ; chr16:g.2106664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106664C>G , CM000678.2:g.2106664C>G	GRCh38
NC_000016.9:g.2156665C>G , CM000678.1:g.2156665C>G	GRCh37
NC_000016.8:g.2096666C>G	NCBI36
NG_008617.1:g.34235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7223G>C MANE Select	ENSP00000262304.4:p.Arg2408Pro
ENST00000262304.8:c.7223G>C	ENSP00000262304.4:p.Arg2408Pro
ENST00000415938.7:n.468G>C
ENST00000423118.5:c.7223G>C	ENSP00000399501.1:p.Arg2408Pro
ENST00000483024.1:c.391G>C
ENST00000483558.5:n.282G>C
ENST00000483731.5:n.948G>C
ENST00000486339.6:n.969G>C
ENST00000487932.5:c.1910G>C	ENSP00000457132.1:p.Arg637Pro
ENST00000496574.6:n.1226G>C
ENST00000565639.6:n.931G>C
ENST00000568591.5:c.2384G>C	ENSP00000457162.1:n.2384G>C
ENST00000569983.5:n.579G>C
NM_000296.3:c.7223G>C	NP_000287.3:p.Arg2408Pro
NM_001009944.2:c.7223G>C	NP_001009944.2:p.Arg2408Pro
XM_005255370.2:c.4178G>C	XP_005255427.1:p.Arg1393Pro
XM_011522525.1:c.7301G>C	XP_011520827.1:p.Arg2434Pro
XM_011522526.1:c.7301G>C	XP_011520828.1:p.Arg2434Pro
XM_011522527.1:c.7301G>C	XP_011520829.1:p.Arg2434Pro
XM_011522528.1:c.7277G>C	XP_011520830.1:p.Arg2426Pro
XM_011522529.1:c.7277G>C	XP_011520831.1:p.Arg2426Pro
XM_011522530.1:c.7247G>C	XP_011520832.1:p.Arg2416Pro
XM_011522531.1:c.7229G>C	XP_011520833.1:p.Arg2410Pro
XM_011522532.1:c.7175G>C	XP_011520834.1:p.Arg2392Pro
XM_011522533.1:c.7094G>C	XP_011520835.1:p.Arg2365Pro
XM_011522534.1:c.7037G>C	XP_011520836.1:p.Arg2346Pro
XM_011522535.1:c.5123G>C	XP_011520837.1:p.Arg1708Pro
XM_011522536.1:c.7301G>C	XP_011520838.1:p.Arg2434Pro
XM_011522537.1:c.4301G>C	XP_011520839.1:p.Arg1434Pro
XR_932867.1:n.7316G>C
XR_932868.1:n.7316G>C
XR_932869.1:n.7316G>C
XR_932870.1:n.7316G>C
XM_005255370.3:c.4178G>C	XP_005255427.1:p.Arg1393Pro
XM_011522528.3:c.7277G>C	XP_011520830.1:p.Arg2426Pro
XM_011522529.2:c.7277G>C	XP_011520831.1:p.Arg2426Pro
XM_011522537.2:c.4301G>C	XP_011520839.1:p.Arg1434Pro
XM_024450298.1:c.7343G>C	XP_024306066.1:p.Arg2448Pro
XM_024450299.1:c.7271G>C	XP_024306067.1:p.Arg2424Pro
XM_024450300.1:c.7133G>C	XP_024306068.1:p.Arg2378Pro
XM_024450301.1:c.5219G>C	XP_024306069.1:p.Arg1740Pro
NM_000296.4:c.7223G>C	NP_000287.4:p.Arg2408Pro
NM_001009944.3:c.7223G>C MANE Select	NP_001009944.3:p.Arg2408Pro