Canonical Allele Identifier: CA394370329

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156585G>C (hg19) ; chr16:g.2106584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106584G>C , CM000678.2:g.2106584G>C	GRCh38
NC_000016.9:g.2156585G>C , CM000678.1:g.2156585G>C	GRCh37
NC_000016.8:g.2096586G>C	NCBI36
NG_008617.1:g.34315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7303C>G MANE Select	ENSP00000262304.4:p.Arg2435Gly
ENST00000262304.8:c.7303C>G	ENSP00000262304.4:p.Arg2435Gly
ENST00000415938.7:n.548C>G
ENST00000423118.5:c.7303C>G	ENSP00000399501.1:p.Arg2435Gly
ENST00000483558.5:n.362C>G
ENST00000483731.5:n.1028C>G
ENST00000486339.6:n.1049C>G
ENST00000487932.5:c.1990C>G	ENSP00000457132.1:p.Arg664Gly
ENST00000496574.6:n.1306C>G
ENST00000565639.6:n.1011C>G
ENST00000568591.5:c.2464C>G	ENSP00000457162.1:n.2464C>G
ENST00000569983.5:n.659C>G
NM_000296.3:c.7303C>G	NP_000287.3:p.Arg2435Gly
NM_001009944.2:c.7303C>G	NP_001009944.2:p.Arg2435Gly
XM_005255370.2:c.4258C>G	XP_005255427.1:p.Arg1420Gly
XM_011522525.1:c.7381C>G	XP_011520827.1:p.Arg2461Gly
XM_011522526.1:c.7381C>G	XP_011520828.1:p.Arg2461Gly
XM_011522527.1:c.7381C>G	XP_011520829.1:p.Arg2461Gly
XM_011522528.1:c.7357C>G	XP_011520830.1:p.Arg2453Gly
XM_011522529.1:c.7357C>G	XP_011520831.1:p.Arg2453Gly
XM_011522530.1:c.7327C>G	XP_011520832.1:p.Arg2443Gly
XM_011522531.1:c.7309C>G	XP_011520833.1:p.Arg2437Gly
XM_011522532.1:c.7255C>G	XP_011520834.1:p.Arg2419Gly
XM_011522533.1:c.7174C>G	XP_011520835.1:p.Arg2392Gly
XM_011522534.1:c.7117C>G	XP_011520836.1:p.Arg2373Gly
XM_011522535.1:c.5203C>G	XP_011520837.1:p.Arg1735Gly
XM_011522536.1:c.7381C>G	XP_011520838.1:p.Arg2461Gly
XM_011522537.1:c.4381C>G	XP_011520839.1:p.Arg1461Gly
XR_932867.1:n.7396C>G
XR_932868.1:n.7396C>G
XR_932869.1:n.7396C>G
XR_932870.1:n.7396C>G
XM_005255370.3:c.4258C>G	XP_005255427.1:p.Arg1420Gly
XM_011522528.3:c.7357C>G	XP_011520830.1:p.Arg2453Gly
XM_011522529.2:c.7357C>G	XP_011520831.1:p.Arg2453Gly
XM_011522537.2:c.4381C>G	XP_011520839.1:p.Arg1461Gly
XM_024450298.1:c.7423C>G	XP_024306066.1:p.Arg2475Gly
XM_024450299.1:c.7351C>G	XP_024306067.1:p.Arg2451Gly
XM_024450300.1:c.7213C>G	XP_024306068.1:p.Arg2405Gly
XM_024450301.1:c.5299C>G	XP_024306069.1:p.Arg1767Gly
NM_000296.4:c.7303C>G	NP_000287.4:p.Arg2435Gly
NM_001009944.3:c.7303C>G MANE Select	NP_001009944.3:p.Arg2435Gly