Canonical Allele Identifier: CA493046954
Gene: PKD1 HGNC NCBI
MIR6511B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2156670A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106669A>C , CM000678.2:g.2106669A>C GRCh38
NC_000016.9:g.2156670A>C , CM000678.1:g.2156670A>C GRCh37
NC_000016.8:g.2096671A>C NCBI36
NG_008617.1:g.34230T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7218T>G (PKD1) MANE Select ENSP00000262304.4:p.Ala2406=
ENST00000262304.8:c.7218T>G (PKD1) ENSP00000262304.4:p.Ala2406=
ENST00000415938.7:n.463T>G (PKD1)
ENST00000423118.5:c.7218T>G (PKD1) ENSP00000399501.1:p.Ala2406=
ENST00000483024.1:c.386T>G (PKD1)
ENST00000483558.5:n.277T>G (PKD1)
ENST00000483731.5:n.943T>G (PKD1)
ENST00000486339.6:n.964T>G (PKD1)
ENST00000487932.5:c.1905T>G (PKD1) ENSP00000457132.1:p.Ala635=
ENST00000496574.6:n.1221T>G (PKD1)
ENST00000565639.6:n.926T>G (PKD1)
ENST00000568591.5:c.2379T>G (PKD1) ENSP00000457162.1:n.2379T>G
ENST00000569983.5:n.574T>G (PKD1)
NM_000296.3:c.7218T>G (PKD1) NP_000287.3:p.Ala2406=
NM_001009944.2:c.7218T>G (PKD1) NP_001009944.2:p.Ala2406=
NR_106775.1:n.85T>G (MIR6511B1)
XM_005255370.2:c.4173T>G (PKD1) XP_005255427.1:p.Ala1391=
XM_011522525.1:c.7296T>G (PKD1) XP_011520827.1:p.Ala2432=
XM_011522526.1:c.7296T>G (PKD1) XP_011520828.1:p.Ala2432=
XM_011522527.1:c.7296T>G (PKD1) XP_011520829.1:p.Ala2432=
XM_011522528.1:c.7272T>G (PKD1) XP_011520830.1:p.Ala2424=
XM_011522529.1:c.7272T>G (PKD1) XP_011520831.1:p.Ala2424=
XM_011522530.1:c.7242T>G (PKD1) XP_011520832.1:p.Ala2414=
XM_011522531.1:c.7224T>G (PKD1) XP_011520833.1:p.Ala2408=
XM_011522532.1:c.7170T>G (PKD1) XP_011520834.1:p.Ala2390=
XM_011522533.1:c.7089T>G (PKD1) XP_011520835.1:p.Ala2363=
XM_011522534.1:c.7032T>G (PKD1) XP_011520836.1:p.Ala2344=
XM_011522535.1:c.5118T>G (PKD1) XP_011520837.1:p.Ala1706=
XM_011522536.1:c.7296T>G (PKD1) XP_011520838.1:p.Ala2432=
XM_011522537.1:c.4296T>G (PKD1) XP_011520839.1:p.Ala1432=
XR_932867.1:n.7311T>G (PKD1)
XR_932868.1:n.7311T>G (PKD1)
XR_932869.1:n.7311T>G (PKD1)
XR_932870.1:n.7311T>G (PKD1)
XM_005255370.3:c.4173T>G (PKD1) XP_005255427.1:p.Ala1391=
XM_011522528.3:c.7272T>G (PKD1) XP_011520830.1:p.Ala2424=
XM_011522529.2:c.7272T>G (PKD1) XP_011520831.1:p.Ala2424=
XM_011522537.2:c.4296T>G (PKD1) XP_011520839.1:p.Ala1432=
XM_024450298.1:c.7338T>G (PKD1) XP_024306066.1:p.Ala2446=
XM_024450299.1:c.7266T>G (PKD1) XP_024306067.1:p.Ala2422=
XM_024450300.1:c.7128T>G (PKD1) XP_024306068.1:p.Ala2376=
XM_024450301.1:c.5214T>G (PKD1) XP_024306069.1:p.Ala1738=
NM_000296.4:c.7218T>G (PKD1) NP_000287.4:p.Ala2406=
NM_001009944.3:c.7218T>G (PKD1) MANE Select NP_001009944.3:p.Ala2406=