Canonical Allele Identifier: CA394371283

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 873380
• ClinVar RCV Id: RCV001095608
• dbSNP Id: rs2092347343
• gnomAD v4: 16-2106672-C-A
• MyVariant Identifiers: chr16:g.2156673C>A (hg19) ; chr16:g.2106672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106672C>A , CM000678.2:g.2106672C>A	GRCh38
NC_000016.9:g.2156673C>A , CM000678.1:g.2156673C>A	GRCh37
NC_000016.8:g.2096674C>A	NCBI36
NG_008617.1:g.34227G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7215G>T (PKD1) MANE Select	ENSP00000262304.4:p.Trp2405Cys
ENST00000262304.8:c.7215G>T (PKD1)	ENSP00000262304.4:p.Trp2405Cys
ENST00000415938.7:n.460G>T (PKD1)
ENST00000423118.5:c.7215G>T (PKD1)	ENSP00000399501.1:p.Trp2405Cys
ENST00000483024.1:c.383G>T (PKD1)
ENST00000483558.5:n.274G>T (PKD1)
ENST00000483731.5:n.940G>T (PKD1)
ENST00000486339.6:n.961G>T (PKD1)
ENST00000487932.5:c.1902G>T (PKD1)	ENSP00000457132.1:p.Trp634Cys
ENST00000496574.6:n.1218G>T (PKD1)
ENST00000565639.6:n.923G>T (PKD1)
ENST00000568591.5:c.2376G>T (PKD1)	ENSP00000457162.1:n.2376G>T
ENST00000569983.5:n.571G>T (PKD1)
NM_000296.3:c.7215G>T (PKD1)	NP_000287.3:p.Trp2405Cys
NM_001009944.2:c.7215G>T (PKD1)	NP_001009944.2:p.Trp2405Cys
NR_106775.1:n.82G>T (MIR6511B1)
XM_005255370.2:c.4170G>T (PKD1)	XP_005255427.1:p.Trp1390Cys
XM_011522525.1:c.7293G>T (PKD1)	XP_011520827.1:p.Trp2431Cys
XM_011522526.1:c.7293G>T (PKD1)	XP_011520828.1:p.Trp2431Cys
XM_011522527.1:c.7293G>T (PKD1)	XP_011520829.1:p.Trp2431Cys
XM_011522528.1:c.7269G>T (PKD1)	XP_011520830.1:p.Trp2423Cys
XM_011522529.1:c.7269G>T (PKD1)	XP_011520831.1:p.Trp2423Cys
XM_011522530.1:c.7239G>T (PKD1)	XP_011520832.1:p.Trp2413Cys
XM_011522531.1:c.7221G>T (PKD1)	XP_011520833.1:p.Trp2407Cys
XM_011522532.1:c.7167G>T (PKD1)	XP_011520834.1:p.Trp2389Cys
XM_011522533.1:c.7086G>T (PKD1)	XP_011520835.1:p.Trp2362Cys
XM_011522534.1:c.7029G>T (PKD1)	XP_011520836.1:p.Trp2343Cys
XM_011522535.1:c.5115G>T (PKD1)	XP_011520837.1:p.Trp1705Cys
XM_011522536.1:c.7293G>T (PKD1)	XP_011520838.1:p.Trp2431Cys
XM_011522537.1:c.4293G>T (PKD1)	XP_011520839.1:p.Trp1431Cys
XR_932867.1:n.7308G>T (PKD1)
XR_932868.1:n.7308G>T (PKD1)
XR_932869.1:n.7308G>T (PKD1)
XR_932870.1:n.7308G>T (PKD1)
XM_005255370.3:c.4170G>T (PKD1)	XP_005255427.1:p.Trp1390Cys
XM_011522528.3:c.7269G>T (PKD1)	XP_011520830.1:p.Trp2423Cys
XM_011522529.2:c.7269G>T (PKD1)	XP_011520831.1:p.Trp2423Cys
XM_011522537.2:c.4293G>T (PKD1)	XP_011520839.1:p.Trp1431Cys
XM_024450298.1:c.7335G>T (PKD1)	XP_024306066.1:p.Trp2445Cys
XM_024450299.1:c.7263G>T (PKD1)	XP_024306067.1:p.Trp2421Cys
XM_024450300.1:c.7125G>T (PKD1)	XP_024306068.1:p.Trp2375Cys
XM_024450301.1:c.5211G>T (PKD1)	XP_024306069.1:p.Trp1737Cys
NM_000296.4:c.7215G>T (PKD1)	NP_000287.4:p.Trp2405Cys
NM_001009944.3:c.7215G>T (PKD1) MANE Select	NP_001009944.3:p.Trp2405Cys