Canonical Allele Identifier: CA7831218

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 1343023
• ClinVar RCV Id: RCV001843625 ; RCV003416489
• dbSNP Id: rs766631753
• ExAC: 16:2156678 G / A
• gnomAD v2: 16-2156678-G-A
• gnomAD v3: 16-2106677-G-A
• gnomAD v4: 16-2106677-G-A
• MyVariant Identifiers: chr16:g.2156678G>A (hg19) ; chr16:g.2106677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106677G>A , CM000678.2:g.2106677G>A	GRCh38
NC_000016.9:g.2156678G>A , CM000678.1:g.2156678G>A	GRCh37
NC_000016.8:g.2096679G>A	NCBI36
NG_008617.1:g.34222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7210C>T (PKD1) MANE Select	ENSP00000262304.4:p.Arg2404Trp
ENST00000262304.8:c.7210C>T (PKD1)	ENSP00000262304.4:p.Arg2404Trp
ENST00000415938.7:n.455C>T (PKD1)
ENST00000423118.5:c.7210C>T (PKD1)	ENSP00000399501.1:p.Arg2404Trp
ENST00000483024.1:c.378C>T (PKD1)
ENST00000483558.5:n.269C>T (PKD1)
ENST00000483731.5:n.935C>T (PKD1)
ENST00000486339.6:n.956C>T (PKD1)
ENST00000487932.5:c.1897C>T (PKD1)	ENSP00000457132.1:p.Arg633Trp
ENST00000496574.6:n.1213C>T (PKD1)
ENST00000565639.6:n.918C>T (PKD1)
ENST00000568591.5:c.2371C>T (PKD1)	ENSP00000457162.1:n.2371C>T
ENST00000569983.5:n.566C>T (PKD1)
NM_000296.3:c.7210C>T (PKD1)	NP_000287.3:p.Arg2404Trp
NM_001009944.2:c.7210C>T (PKD1)	NP_001009944.2:p.Arg2404Trp
NR_106775.1:n.77C>T (MIR6511B1)
XM_005255370.2:c.4165C>T (PKD1)	XP_005255427.1:p.Arg1389Trp
XM_011522525.1:c.7288C>T (PKD1)	XP_011520827.1:p.Arg2430Trp
XM_011522526.1:c.7288C>T (PKD1)	XP_011520828.1:p.Arg2430Trp
XM_011522527.1:c.7288C>T (PKD1)	XP_011520829.1:p.Arg2430Trp
XM_011522528.1:c.7264C>T (PKD1)	XP_011520830.1:p.Arg2422Trp
XM_011522529.1:c.7264C>T (PKD1)	XP_011520831.1:p.Arg2422Trp
XM_011522530.1:c.7234C>T (PKD1)	XP_011520832.1:p.Arg2412Trp
XM_011522531.1:c.7216C>T (PKD1)	XP_011520833.1:p.Arg2406Trp
XM_011522532.1:c.7162C>T (PKD1)	XP_011520834.1:p.Arg2388Trp
XM_011522533.1:c.7081C>T (PKD1)	XP_011520835.1:p.Arg2361Trp
XM_011522534.1:c.7024C>T (PKD1)	XP_011520836.1:p.Arg2342Trp
XM_011522535.1:c.5110C>T (PKD1)	XP_011520837.1:p.Arg1704Trp
XM_011522536.1:c.7288C>T (PKD1)	XP_011520838.1:p.Arg2430Trp
XM_011522537.1:c.4288C>T (PKD1)	XP_011520839.1:p.Arg1430Trp
XR_932867.1:n.7303C>T (PKD1)
XR_932868.1:n.7303C>T (PKD1)
XR_932869.1:n.7303C>T (PKD1)
XR_932870.1:n.7303C>T (PKD1)
XM_005255370.3:c.4165C>T (PKD1)	XP_005255427.1:p.Arg1389Trp
XM_011522528.3:c.7264C>T (PKD1)	XP_011520830.1:p.Arg2422Trp
XM_011522529.2:c.7264C>T (PKD1)	XP_011520831.1:p.Arg2422Trp
XM_011522537.2:c.4288C>T (PKD1)	XP_011520839.1:p.Arg1430Trp
XM_024450298.1:c.7330C>T (PKD1)	XP_024306066.1:p.Arg2444Trp
XM_024450299.1:c.7258C>T (PKD1)	XP_024306067.1:p.Arg2420Trp
XM_024450300.1:c.7120C>T (PKD1)	XP_024306068.1:p.Arg2374Trp
XM_024450301.1:c.5206C>T (PKD1)	XP_024306069.1:p.Arg1736Trp
NM_000296.4:c.7210C>T (PKD1)	NP_000287.4:p.Arg2404Trp
NM_001009944.3:c.7210C>T (PKD1) MANE Select	NP_001009944.3:p.Arg2404Trp