Canonical Allele Identifier: CA394371299

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 1807312
• ClinVar RCV Id: RCV002475269 ; RCV003896207
• gnomAD v4: 16-2106674-A-G
• MyVariant Identifiers: chr16:g.2156675A>G (hg19) ; chr16:g.2106674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106674A>G , CM000678.2:g.2106674A>G	GRCh38
NC_000016.9:g.2156675A>G , CM000678.1:g.2156675A>G	GRCh37
NC_000016.8:g.2096676A>G	NCBI36
NG_008617.1:g.34225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7213T>C (PKD1) MANE Select	ENSP00000262304.4:p.Trp2405Arg
ENST00000262304.8:c.7213T>C (PKD1)	ENSP00000262304.4:p.Trp2405Arg
ENST00000415938.7:n.458T>C (PKD1)
ENST00000423118.5:c.7213T>C (PKD1)	ENSP00000399501.1:p.Trp2405Arg
ENST00000483024.1:c.381T>C (PKD1)
ENST00000483558.5:n.272T>C (PKD1)
ENST00000483731.5:n.938T>C (PKD1)
ENST00000486339.6:n.959T>C (PKD1)
ENST00000487932.5:c.1900T>C (PKD1)	ENSP00000457132.1:p.Trp634Arg
ENST00000496574.6:n.1216T>C (PKD1)
ENST00000565639.6:n.921T>C (PKD1)
ENST00000568591.5:c.2374T>C (PKD1)	ENSP00000457162.1:n.2374T>C
ENST00000569983.5:n.569T>C (PKD1)
NM_000296.3:c.7213T>C (PKD1)	NP_000287.3:p.Trp2405Arg
NM_001009944.2:c.7213T>C (PKD1)	NP_001009944.2:p.Trp2405Arg
NR_106775.1:n.80T>C (MIR6511B1)
XM_005255370.2:c.4168T>C (PKD1)	XP_005255427.1:p.Trp1390Arg
XM_011522525.1:c.7291T>C (PKD1)	XP_011520827.1:p.Trp2431Arg
XM_011522526.1:c.7291T>C (PKD1)	XP_011520828.1:p.Trp2431Arg
XM_011522527.1:c.7291T>C (PKD1)	XP_011520829.1:p.Trp2431Arg
XM_011522528.1:c.7267T>C (PKD1)	XP_011520830.1:p.Trp2423Arg
XM_011522529.1:c.7267T>C (PKD1)	XP_011520831.1:p.Trp2423Arg
XM_011522530.1:c.7237T>C (PKD1)	XP_011520832.1:p.Trp2413Arg
XM_011522531.1:c.7219T>C (PKD1)	XP_011520833.1:p.Trp2407Arg
XM_011522532.1:c.7165T>C (PKD1)	XP_011520834.1:p.Trp2389Arg
XM_011522533.1:c.7084T>C (PKD1)	XP_011520835.1:p.Trp2362Arg
XM_011522534.1:c.7027T>C (PKD1)	XP_011520836.1:p.Trp2343Arg
XM_011522535.1:c.5113T>C (PKD1)	XP_011520837.1:p.Trp1705Arg
XM_011522536.1:c.7291T>C (PKD1)	XP_011520838.1:p.Trp2431Arg
XM_011522537.1:c.4291T>C (PKD1)	XP_011520839.1:p.Trp1431Arg
XR_932867.1:n.7306T>C (PKD1)
XR_932868.1:n.7306T>C (PKD1)
XR_932869.1:n.7306T>C (PKD1)
XR_932870.1:n.7306T>C (PKD1)
XM_005255370.3:c.4168T>C (PKD1)	XP_005255427.1:p.Trp1390Arg
XM_011522528.3:c.7267T>C (PKD1)	XP_011520830.1:p.Trp2423Arg
XM_011522529.2:c.7267T>C (PKD1)	XP_011520831.1:p.Trp2423Arg
XM_011522537.2:c.4291T>C (PKD1)	XP_011520839.1:p.Trp1431Arg
XM_024450298.1:c.7333T>C (PKD1)	XP_024306066.1:p.Trp2445Arg
XM_024450299.1:c.7261T>C (PKD1)	XP_024306067.1:p.Trp2421Arg
XM_024450300.1:c.7123T>C (PKD1)	XP_024306068.1:p.Trp2375Arg
XM_024450301.1:c.5209T>C (PKD1)	XP_024306069.1:p.Trp1737Arg
NM_000296.4:c.7213T>C (PKD1)	NP_000287.4:p.Trp2405Arg
NM_001009944.3:c.7213T>C (PKD1) MANE Select	NP_001009944.3:p.Trp2405Arg