Canonical Allele Identifier: CA394370456

Gene: PKD1

Linked Data

• dbSNP Id: rs1335660956
• gnomAD v2: 16-2156611-C-T
• gnomAD v4: 16-2106610-C-T
• MyVariant Identifiers: chr16:g.2156611C>T (hg19) ; chr16:g.2106610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106610C>T , CM000678.2:g.2106610C>T	GRCh38
NC_000016.9:g.2156611C>T , CM000678.1:g.2156611C>T	GRCh37
NC_000016.8:g.2096612C>T	NCBI36
NG_008617.1:g.34289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7277G>A MANE Select	ENSP00000262304.4:p.Ser2426Asn
ENST00000262304.8:c.7277G>A	ENSP00000262304.4:p.Ser2426Asn
ENST00000415938.7:n.522G>A
ENST00000423118.5:c.7277G>A	ENSP00000399501.1:p.Ser2426Asn
ENST00000483024.1:c.445G>A
ENST00000483558.5:n.336G>A
ENST00000483731.5:n.1002G>A
ENST00000486339.6:n.1023G>A
ENST00000487932.5:c.1964G>A	ENSP00000457132.1:p.Ser655Asn
ENST00000496574.6:n.1280G>A
ENST00000565639.6:n.985G>A
ENST00000568591.5:c.2438G>A	ENSP00000457162.1:n.2438G>A
ENST00000569983.5:n.633G>A
NM_000296.3:c.7277G>A	NP_000287.3:p.Ser2426Asn
NM_001009944.2:c.7277G>A	NP_001009944.2:p.Ser2426Asn
XM_005255370.2:c.4232G>A	XP_005255427.1:p.Ser1411Asn
XM_011522525.1:c.7355G>A	XP_011520827.1:p.Ser2452Asn
XM_011522526.1:c.7355G>A	XP_011520828.1:p.Ser2452Asn
XM_011522527.1:c.7355G>A	XP_011520829.1:p.Ser2452Asn
XM_011522528.1:c.7331G>A	XP_011520830.1:p.Ser2444Asn
XM_011522529.1:c.7331G>A	XP_011520831.1:p.Ser2444Asn
XM_011522530.1:c.7301G>A	XP_011520832.1:p.Ser2434Asn
XM_011522531.1:c.7283G>A	XP_011520833.1:p.Ser2428Asn
XM_011522532.1:c.7229G>A	XP_011520834.1:p.Ser2410Asn
XM_011522533.1:c.7148G>A	XP_011520835.1:p.Ser2383Asn
XM_011522534.1:c.7091G>A	XP_011520836.1:p.Ser2364Asn
XM_011522535.1:c.5177G>A	XP_011520837.1:p.Ser1726Asn
XM_011522536.1:c.7355G>A	XP_011520838.1:p.Ser2452Asn
XM_011522537.1:c.4355G>A	XP_011520839.1:p.Ser1452Asn
XR_932867.1:n.7370G>A
XR_932868.1:n.7370G>A
XR_932869.1:n.7370G>A
XR_932870.1:n.7370G>A
XM_005255370.3:c.4232G>A	XP_005255427.1:p.Ser1411Asn
XM_011522528.3:c.7331G>A	XP_011520830.1:p.Ser2444Asn
XM_011522529.2:c.7331G>A	XP_011520831.1:p.Ser2444Asn
XM_011522537.2:c.4355G>A	XP_011520839.1:p.Ser1452Asn
XM_024450298.1:c.7397G>A	XP_024306066.1:p.Ser2466Asn
XM_024450299.1:c.7325G>A	XP_024306067.1:p.Ser2442Asn
XM_024450300.1:c.7187G>A	XP_024306068.1:p.Ser2396Asn
XM_024450301.1:c.5273G>A	XP_024306069.1:p.Ser1758Asn
NM_000296.4:c.7277G>A	NP_000287.4:p.Ser2426Asn
NM_001009944.3:c.7277G>A MANE Select	NP_001009944.3:p.Ser2426Asn