Canonical Allele Identifier: CA493046714

Gene: PKD1

Linked Data

• dbSNP Id: rs1298299416
• gnomAD v2: 16-2156529-G-C
• gnomAD v4: 16-2106528-G-C
• MyVariant Identifiers: chr16:g.2156529G>C (hg19) ; chr16:g.2106528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106528G>C , CM000678.2:g.2106528G>C	GRCh38
NC_000016.9:g.2156529G>C , CM000678.1:g.2156529G>C	GRCh37
NC_000016.8:g.2096530G>C	NCBI36
NG_008617.1:g.34371C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7359C>G MANE Select	ENSP00000262304.4:p.Arg2453=
ENST00000262304.8:c.7359C>G	ENSP00000262304.4:p.Arg2453=
ENST00000415938.7:n.604C>G
ENST00000423118.5:c.7359C>G	ENSP00000399501.1:p.Arg2453=
ENST00000483558.5:n.418C>G
ENST00000483731.5:n.1084C>G
ENST00000486339.6:n.1105C>G
ENST00000487932.5:c.2046C>G	ENSP00000457132.1:p.Arg682=
ENST00000496574.6:n.1362C>G
ENST00000565639.6:n.1067C>G
ENST00000568591.5:c.2520C>G	ENSP00000457162.1:n.2520C>G
ENST00000569983.5:n.715C>G
NM_000296.3:c.7359C>G	NP_000287.3:p.Arg2453=
NM_001009944.2:c.7359C>G	NP_001009944.2:p.Arg2453=
XM_005255370.2:c.4314C>G	XP_005255427.1:p.Arg1438=
XM_011522525.1:c.7437C>G	XP_011520827.1:p.Arg2479=
XM_011522526.1:c.7437C>G	XP_011520828.1:p.Arg2479=
XM_011522527.1:c.7437C>G	XP_011520829.1:p.Arg2479=
XM_011522528.1:c.7413C>G	XP_011520830.1:p.Arg2471=
XM_011522529.1:c.7413C>G	XP_011520831.1:p.Arg2471=
XM_011522530.1:c.7383C>G	XP_011520832.1:p.Arg2461=
XM_011522531.1:c.7365C>G	XP_011520833.1:p.Arg2455=
XM_011522532.1:c.7311C>G	XP_011520834.1:p.Arg2437=
XM_011522533.1:c.7230C>G	XP_011520835.1:p.Arg2410=
XM_011522534.1:c.7173C>G	XP_011520836.1:p.Arg2391=
XM_011522535.1:c.5259C>G	XP_011520837.1:p.Arg1753=
XM_011522536.1:c.7437C>G	XP_011520838.1:p.Arg2479=
XM_011522537.1:c.4437C>G	XP_011520839.1:p.Arg1479=
XR_932867.1:n.7452C>G
XR_932868.1:n.7452C>G
XR_932869.1:n.7452C>G
XR_932870.1:n.7452C>G
XM_005255370.3:c.4314C>G	XP_005255427.1:p.Arg1438=
XM_011522528.3:c.7413C>G	XP_011520830.1:p.Arg2471=
XM_011522529.2:c.7413C>G	XP_011520831.1:p.Arg2471=
XM_011522537.2:c.4437C>G	XP_011520839.1:p.Arg1479=
XM_024450298.1:c.7479C>G	XP_024306066.1:p.Arg2493=
XM_024450299.1:c.7407C>G	XP_024306067.1:p.Arg2469=
XM_024450300.1:c.7269C>G	XP_024306068.1:p.Arg2423=
XM_024450301.1:c.5355C>G	XP_024306069.1:p.Arg1785=
NM_000296.4:c.7359C>G	NP_000287.4:p.Arg2453=
NM_001009944.3:c.7359C>G MANE Select	NP_001009944.3:p.Arg2453=