Canonical Allele Identifier: CA493046884

Gene: PKD1

Linked Data

• dbSNP Id: rs1385571300
• gnomAD v2: 16-2156622-T-C
• gnomAD v4: 16-2106621-T-C
• MyVariant Identifiers: chr16:g.2156622T>C (hg19) ; chr16:g.2106621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106621T>C , CM000678.2:g.2106621T>C	GRCh38
NC_000016.9:g.2156622T>C , CM000678.1:g.2156622T>C	GRCh37
NC_000016.8:g.2096623T>C	NCBI36
NG_008617.1:g.34278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7266A>G MANE Select	ENSP00000262304.4:p.Thr2422=
ENST00000262304.8:c.7266A>G	ENSP00000262304.4:p.Thr2422=
ENST00000415938.7:n.511A>G
ENST00000423118.5:c.7266A>G	ENSP00000399501.1:p.Thr2422=
ENST00000483024.1:c.434A>G
ENST00000483558.5:n.325A>G
ENST00000483731.5:n.991A>G
ENST00000486339.6:n.1012A>G
ENST00000487932.5:c.1953A>G	ENSP00000457132.1:p.Thr651=
ENST00000496574.6:n.1269A>G
ENST00000565639.6:n.974A>G
ENST00000568591.5:c.2427A>G	ENSP00000457162.1:n.2427A>G
ENST00000569983.5:n.622A>G
NM_000296.3:c.7266A>G	NP_000287.3:p.Thr2422=
NM_001009944.2:c.7266A>G	NP_001009944.2:p.Thr2422=
XM_005255370.2:c.4221A>G	XP_005255427.1:p.Thr1407=
XM_011522525.1:c.7344A>G	XP_011520827.1:p.Thr2448=
XM_011522526.1:c.7344A>G	XP_011520828.1:p.Thr2448=
XM_011522527.1:c.7344A>G	XP_011520829.1:p.Thr2448=
XM_011522528.1:c.7320A>G	XP_011520830.1:p.Thr2440=
XM_011522529.1:c.7320A>G	XP_011520831.1:p.Thr2440=
XM_011522530.1:c.7290A>G	XP_011520832.1:p.Thr2430=
XM_011522531.1:c.7272A>G	XP_011520833.1:p.Thr2424=
XM_011522532.1:c.7218A>G	XP_011520834.1:p.Thr2406=
XM_011522533.1:c.7137A>G	XP_011520835.1:p.Thr2379=
XM_011522534.1:c.7080A>G	XP_011520836.1:p.Thr2360=
XM_011522535.1:c.5166A>G	XP_011520837.1:p.Thr1722=
XM_011522536.1:c.7344A>G	XP_011520838.1:p.Thr2448=
XM_011522537.1:c.4344A>G	XP_011520839.1:p.Thr1448=
XR_932867.1:n.7359A>G
XR_932868.1:n.7359A>G
XR_932869.1:n.7359A>G
XR_932870.1:n.7359A>G
XM_005255370.3:c.4221A>G	XP_005255427.1:p.Thr1407=
XM_011522528.3:c.7320A>G	XP_011520830.1:p.Thr2440=
XM_011522529.2:c.7320A>G	XP_011520831.1:p.Thr2440=
XM_011522537.2:c.4344A>G	XP_011520839.1:p.Thr1448=
XM_024450298.1:c.7386A>G	XP_024306066.1:p.Thr2462=
XM_024450299.1:c.7314A>G	XP_024306067.1:p.Thr2438=
XM_024450300.1:c.7176A>G	XP_024306068.1:p.Thr2392=
XM_024450301.1:c.5262A>G	XP_024306069.1:p.Thr1754=
NM_000296.4:c.7266A>G	NP_000287.4:p.Thr2422=
NM_001009944.3:c.7266A>G MANE Select	NP_001009944.3:p.Thr2422=