Canonical Allele Identifier: CA394371293

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 811806
• ClinVar RCV Id: RCV001002187
• dbSNP Id: rs1555453244
• gnomAD v4: 16-2106673-C-T
• MyVariant Identifiers: chr16:g.2156674C>T (hg19) ; chr16:g.2106673C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7214G>A (PKD1) MANE Select	ENSP00000262304.4:p.Trp2405Ter
ENST00000262304.8:c.7214G>A (PKD1)	ENSP00000262304.4:p.Trp2405Ter
ENST00000415938.7:n.459G>A (PKD1)
ENST00000423118.5:c.7214G>A (PKD1)	ENSP00000399501.1:p.Trp2405Ter
ENST00000483024.1:c.382G>A (PKD1)
ENST00000483558.5:n.273G>A (PKD1)
ENST00000483731.5:n.939G>A (PKD1)
ENST00000486339.6:n.960G>A (PKD1)
ENST00000487932.5:c.1901G>A (PKD1)	ENSP00000457132.1:p.Trp634Ter
ENST00000496574.6:n.1217G>A (PKD1)
ENST00000565639.6:n.922G>A (PKD1)
ENST00000568591.5:c.2375G>A (PKD1)	ENSP00000457162.1:n.2375G>A
ENST00000569983.5:n.570G>A (PKD1)
NM_000296.3:c.7214G>A (PKD1)	NP_000287.3:p.Trp2405Ter
NM_001009944.2:c.7214G>A (PKD1)	NP_001009944.2:p.Trp2405Ter
NR_106775.1:n.81G>A (MIR6511B1)
XM_005255370.2:c.4169G>A (PKD1)	XP_005255427.1:p.Trp1390Ter
XM_011522525.1:c.7292G>A (PKD1)	XP_011520827.1:p.Trp2431Ter
XM_011522526.1:c.7292G>A (PKD1)	XP_011520828.1:p.Trp2431Ter
XM_011522527.1:c.7292G>A (PKD1)	XP_011520829.1:p.Trp2431Ter
XM_011522528.1:c.7268G>A (PKD1)	XP_011520830.1:p.Trp2423Ter
XM_011522529.1:c.7268G>A (PKD1)	XP_011520831.1:p.Trp2423Ter
XM_011522530.1:c.7238G>A (PKD1)	XP_011520832.1:p.Trp2413Ter
XM_011522531.1:c.7220G>A (PKD1)	XP_011520833.1:p.Trp2407Ter
XM_011522532.1:c.7166G>A (PKD1)	XP_011520834.1:p.Trp2389Ter
XM_011522533.1:c.7085G>A (PKD1)	XP_011520835.1:p.Trp2362Ter
XM_011522534.1:c.7028G>A (PKD1)	XP_011520836.1:p.Trp2343Ter
XM_011522535.1:c.5114G>A (PKD1)	XP_011520837.1:p.Trp1705Ter
XM_011522536.1:c.7292G>A (PKD1)	XP_011520838.1:p.Trp2431Ter
XM_011522537.1:c.4292G>A (PKD1)	XP_011520839.1:p.Trp1431Ter
XR_932867.1:n.7307G>A (PKD1)
XR_932868.1:n.7307G>A (PKD1)
XR_932869.1:n.7307G>A (PKD1)
XR_932870.1:n.7307G>A (PKD1)
XM_005255370.3:c.4169G>A (PKD1)	XP_005255427.1:p.Trp1390Ter
XM_011522528.3:c.7268G>A (PKD1)	XP_011520830.1:p.Trp2423Ter
XM_011522529.2:c.7268G>A (PKD1)	XP_011520831.1:p.Trp2423Ter
XM_011522537.2:c.4292G>A (PKD1)	XP_011520839.1:p.Trp1431Ter
XM_024450298.1:c.7334G>A (PKD1)	XP_024306066.1:p.Trp2445Ter
XM_024450299.1:c.7262G>A (PKD1)	XP_024306067.1:p.Trp2421Ter
XM_024450300.1:c.7124G>A (PKD1)	XP_024306068.1:p.Trp2375Ter
XM_024450301.1:c.5210G>A (PKD1)	XP_024306069.1:p.Trp1737Ter
NM_000296.4:c.7214G>A (PKD1)	NP_000287.4:p.Trp2405Ter
NM_001009944.3:c.7214G>A (PKD1) MANE Select	NP_001009944.3:p.Trp2405Ter