Canonical Allele Identifier: CA394371289

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 448002
• ClinVar RCV Id: RCV000517362
• dbSNP Id: rs1555453244
• gnomAD v4: 16-2106673-C-A
• MyVariant Identifiers: chr16:g.2156674C>A (hg19) ; chr16:g.2106673C>A (hg38)
• PubMed: PMID:26632257

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106673C>A , CM000678.2:g.2106673C>A	GRCh38
NC_000016.9:g.2156674C>A , CM000678.1:g.2156674C>A	GRCh37
NC_000016.8:g.2096675C>A	NCBI36
NG_008617.1:g.34226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7214G>T (PKD1) MANE Select	ENSP00000262304.4:p.Trp2405Leu
ENST00000262304.8:c.7214G>T (PKD1)	ENSP00000262304.4:p.Trp2405Leu
ENST00000415938.7:n.459G>T (PKD1)
ENST00000423118.5:c.7214G>T (PKD1)	ENSP00000399501.1:p.Trp2405Leu
ENST00000483024.1:c.382G>T (PKD1)
ENST00000483558.5:n.273G>T (PKD1)
ENST00000483731.5:n.939G>T (PKD1)
ENST00000486339.6:n.960G>T (PKD1)
ENST00000487932.5:c.1901G>T (PKD1)	ENSP00000457132.1:p.Trp634Leu
ENST00000496574.6:n.1217G>T (PKD1)
ENST00000565639.6:n.922G>T (PKD1)
ENST00000568591.5:c.2375G>T (PKD1)	ENSP00000457162.1:n.2375G>T
ENST00000569983.5:n.570G>T (PKD1)
NM_000296.3:c.7214G>T (PKD1)	NP_000287.3:p.Trp2405Leu
NM_001009944.2:c.7214G>T (PKD1)	NP_001009944.2:p.Trp2405Leu
NR_106775.1:n.81G>T (MIR6511B1)
XM_005255370.2:c.4169G>T (PKD1)	XP_005255427.1:p.Trp1390Leu
XM_011522525.1:c.7292G>T (PKD1)	XP_011520827.1:p.Trp2431Leu
XM_011522526.1:c.7292G>T (PKD1)	XP_011520828.1:p.Trp2431Leu
XM_011522527.1:c.7292G>T (PKD1)	XP_011520829.1:p.Trp2431Leu
XM_011522528.1:c.7268G>T (PKD1)	XP_011520830.1:p.Trp2423Leu
XM_011522529.1:c.7268G>T (PKD1)	XP_011520831.1:p.Trp2423Leu
XM_011522530.1:c.7238G>T (PKD1)	XP_011520832.1:p.Trp2413Leu
XM_011522531.1:c.7220G>T (PKD1)	XP_011520833.1:p.Trp2407Leu
XM_011522532.1:c.7166G>T (PKD1)	XP_011520834.1:p.Trp2389Leu
XM_011522533.1:c.7085G>T (PKD1)	XP_011520835.1:p.Trp2362Leu
XM_011522534.1:c.7028G>T (PKD1)	XP_011520836.1:p.Trp2343Leu
XM_011522535.1:c.5114G>T (PKD1)	XP_011520837.1:p.Trp1705Leu
XM_011522536.1:c.7292G>T (PKD1)	XP_011520838.1:p.Trp2431Leu
XM_011522537.1:c.4292G>T (PKD1)	XP_011520839.1:p.Trp1431Leu
XR_932867.1:n.7307G>T (PKD1)
XR_932868.1:n.7307G>T (PKD1)
XR_932869.1:n.7307G>T (PKD1)
XR_932870.1:n.7307G>T (PKD1)
XM_005255370.3:c.4169G>T (PKD1)	XP_005255427.1:p.Trp1390Leu
XM_011522528.3:c.7268G>T (PKD1)	XP_011520830.1:p.Trp2423Leu
XM_011522529.2:c.7268G>T (PKD1)	XP_011520831.1:p.Trp2423Leu
XM_011522537.2:c.4292G>T (PKD1)	XP_011520839.1:p.Trp1431Leu
XM_024450298.1:c.7334G>T (PKD1)	XP_024306066.1:p.Trp2445Leu
XM_024450299.1:c.7262G>T (PKD1)	XP_024306067.1:p.Trp2421Leu
XM_024450300.1:c.7124G>T (PKD1)	XP_024306068.1:p.Trp2375Leu
XM_024450301.1:c.5210G>T (PKD1)	XP_024306069.1:p.Trp1737Leu
NM_000296.4:c.7214G>T (PKD1)	NP_000287.4:p.Trp2405Leu
NM_001009944.3:c.7214G>T (PKD1) MANE Select	NP_001009944.3:p.Trp2405Leu