Canonical Allele Identifier: CA394371255

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106665-G-T
• MyVariant Identifiers: chr16:g.2156666G>T (hg19) ; chr16:g.2106665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106665G>T , CM000678.2:g.2106665G>T	GRCh38
NC_000016.9:g.2156666G>T , CM000678.1:g.2156666G>T	GRCh37
NC_000016.8:g.2096667G>T	NCBI36
NG_008617.1:g.34234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7222C>A MANE Select	ENSP00000262304.4:p.Arg2408Ser
ENST00000262304.8:c.7222C>A	ENSP00000262304.4:p.Arg2408Ser
ENST00000415938.7:n.467C>A
ENST00000423118.5:c.7222C>A	ENSP00000399501.1:p.Arg2408Ser
ENST00000483024.1:c.390C>A
ENST00000483558.5:n.281C>A
ENST00000483731.5:n.947C>A
ENST00000486339.6:n.968C>A
ENST00000487932.5:c.1909C>A	ENSP00000457132.1:p.Arg637Ser
ENST00000496574.6:n.1225C>A
ENST00000565639.6:n.930C>A
ENST00000568591.5:c.2383C>A	ENSP00000457162.1:n.2383C>A
ENST00000569983.5:n.578C>A
NM_000296.3:c.7222C>A	NP_000287.3:p.Arg2408Ser
NM_001009944.2:c.7222C>A	NP_001009944.2:p.Arg2408Ser
XM_005255370.2:c.4177C>A	XP_005255427.1:p.Arg1393Ser
XM_011522525.1:c.7300C>A	XP_011520827.1:p.Arg2434Ser
XM_011522526.1:c.7300C>A	XP_011520828.1:p.Arg2434Ser
XM_011522527.1:c.7300C>A	XP_011520829.1:p.Arg2434Ser
XM_011522528.1:c.7276C>A	XP_011520830.1:p.Arg2426Ser
XM_011522529.1:c.7276C>A	XP_011520831.1:p.Arg2426Ser
XM_011522530.1:c.7246C>A	XP_011520832.1:p.Arg2416Ser
XM_011522531.1:c.7228C>A	XP_011520833.1:p.Arg2410Ser
XM_011522532.1:c.7174C>A	XP_011520834.1:p.Arg2392Ser
XM_011522533.1:c.7093C>A	XP_011520835.1:p.Arg2365Ser
XM_011522534.1:c.7036C>A	XP_011520836.1:p.Arg2346Ser
XM_011522535.1:c.5122C>A	XP_011520837.1:p.Arg1708Ser
XM_011522536.1:c.7300C>A	XP_011520838.1:p.Arg2434Ser
XM_011522537.1:c.4300C>A	XP_011520839.1:p.Arg1434Ser
XR_932867.1:n.7315C>A
XR_932868.1:n.7315C>A
XR_932869.1:n.7315C>A
XR_932870.1:n.7315C>A
XM_005255370.3:c.4177C>A	XP_005255427.1:p.Arg1393Ser
XM_011522528.3:c.7276C>A	XP_011520830.1:p.Arg2426Ser
XM_011522529.2:c.7276C>A	XP_011520831.1:p.Arg2426Ser
XM_011522537.2:c.4300C>A	XP_011520839.1:p.Arg1434Ser
XM_024450298.1:c.7342C>A	XP_024306066.1:p.Arg2448Ser
XM_024450299.1:c.7270C>A	XP_024306067.1:p.Arg2424Ser
XM_024450300.1:c.7132C>A	XP_024306068.1:p.Arg2378Ser
XM_024450301.1:c.5218C>A	XP_024306069.1:p.Arg1740Ser
NM_000296.4:c.7222C>A	NP_000287.4:p.Arg2408Ser
NM_001009944.3:c.7222C>A MANE Select	NP_001009944.3:p.Arg2408Ser