Canonical Allele Identifier: CA394382802

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161579C>G (hg19) ; chr16:g.2111578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111578C>G , CM000678.2:g.2111578C>G	GRCh38
NC_000016.9:g.2161579C>G , CM000678.1:g.2161579C>G	GRCh37
NC_000016.8:g.2101580C>G	NCBI36
NG_008617.1:g.29321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3589G>C MANE Select	ENSP00000262304.4:p.Val1197Leu
ENST00000262304.8:c.3589G>C	ENSP00000262304.4:p.Val1197Leu
ENST00000415938.7:n.310+762G>C
ENST00000423118.5:c.3589G>C	ENSP00000399501.1:p.Val1197Leu
ENST00000468674.5:n.430+762G>C
ENST00000469241.2:n.539G>C
ENST00000483024.1:c.233+238G>C
ENST00000483731.5:n.790+762G>C
ENST00000488185.2:c.473-3220G>C
ENST00000565639.6:n.773+762G>C
ENST00000568591.5:c.2226+762G>C	ENSP00000457162.1:n.2226+762G>C
ENST00000569983.5:n.421+762G>C
NM_000296.3:c.3589G>C	NP_000287.3:p.Val1197Leu
NM_001009944.2:c.3589G>C	NP_001009944.2:p.Val1197Leu
XM_005255370.2:c.544G>C	XP_005255427.1:p.Val182Leu
XM_011522525.1:c.3667G>C	XP_011520827.1:p.Val1223Leu
XM_011522526.1:c.3667G>C	XP_011520828.1:p.Val1223Leu
XM_011522527.1:c.3667G>C	XP_011520829.1:p.Val1223Leu
XM_011522528.1:c.3643G>C	XP_011520830.1:p.Val1215Leu
XM_011522529.1:c.3643G>C	XP_011520831.1:p.Val1215Leu
XM_011522530.1:c.3613G>C	XP_011520832.1:p.Val1205Leu
XM_011522531.1:c.3595G>C	XP_011520833.1:p.Val1199Leu
XM_011522532.1:c.3541G>C	XP_011520834.1:p.Val1181Leu
XM_011522533.1:c.3460G>C	XP_011520835.1:p.Val1154Leu
XM_011522534.1:c.3403G>C	XP_011520836.1:p.Val1135Leu
XM_011522535.1:c.1489G>C	XP_011520837.1:p.Val497Leu
XM_011522536.1:c.3667G>C	XP_011520838.1:p.Val1223Leu
XM_011522537.1:c.667G>C	XP_011520839.1:p.Val223Leu
XR_932867.1:n.3682G>C
XR_932868.1:n.3682G>C
XR_932869.1:n.3682G>C
XR_932870.1:n.3682G>C
XM_005255370.3:c.544G>C	XP_005255427.1:p.Val182Leu
XM_011522528.3:c.3643G>C	XP_011520830.1:p.Val1215Leu
XM_011522529.2:c.3643G>C	XP_011520831.1:p.Val1215Leu
XM_011522537.2:c.667G>C	XP_011520839.1:p.Val223Leu
XM_024450298.1:c.3709G>C	XP_024306066.1:p.Val1237Leu
XM_024450299.1:c.3637G>C	XP_024306067.1:p.Val1213Leu
XM_024450300.1:c.3499G>C	XP_024306068.1:p.Val1167Leu
XM_024450301.1:c.1585G>C	XP_024306069.1:p.Val529Leu
NM_000296.4:c.3589G>C	NP_000287.4:p.Val1197Leu
NM_001009944.3:c.3589G>C MANE Select	NP_001009944.3:p.Val1197Leu