Canonical Allele Identifier: CA493046791
Gene: PKD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2156604G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106603G>C , CM000678.2:g.2106603G>C GRCh38
NC_000016.9:g.2156604G>C , CM000678.1:g.2156604G>C GRCh37
NC_000016.8:g.2096605G>C NCBI36
NG_008617.1:g.34296C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.7284C>G MANE Select ENSP00000262304.4:p.Gly2428=
ENST00000262304.8:c.7284C>G ENSP00000262304.4:p.Gly2428=
ENST00000415938.7:n.529C>G
ENST00000423118.5:c.7284C>G ENSP00000399501.1:p.Gly2428=
ENST00000483024.1:c.452C>G
ENST00000483558.5:n.343C>G
ENST00000483731.5:n.1009C>G
ENST00000486339.6:n.1030C>G
ENST00000487932.5:c.1971C>G ENSP00000457132.1:p.Gly657=
ENST00000496574.6:n.1287C>G
ENST00000565639.6:n.992C>G
ENST00000568591.5:c.2445C>G ENSP00000457162.1:n.2445C>G
ENST00000569983.5:n.640C>G
NM_000296.3:c.7284C>G NP_000287.3:p.Gly2428=
NM_001009944.2:c.7284C>G NP_001009944.2:p.Gly2428=
XM_005255370.2:c.4239C>G XP_005255427.1:p.Gly1413=
XM_011522525.1:c.7362C>G XP_011520827.1:p.Gly2454=
XM_011522526.1:c.7362C>G XP_011520828.1:p.Gly2454=
XM_011522527.1:c.7362C>G XP_011520829.1:p.Gly2454=
XM_011522528.1:c.7338C>G XP_011520830.1:p.Gly2446=
XM_011522529.1:c.7338C>G XP_011520831.1:p.Gly2446=
XM_011522530.1:c.7308C>G XP_011520832.1:p.Gly2436=
XM_011522531.1:c.7290C>G XP_011520833.1:p.Gly2430=
XM_011522532.1:c.7236C>G XP_011520834.1:p.Gly2412=
XM_011522533.1:c.7155C>G XP_011520835.1:p.Gly2385=
XM_011522534.1:c.7098C>G XP_011520836.1:p.Gly2366=
XM_011522535.1:c.5184C>G XP_011520837.1:p.Gly1728=
XM_011522536.1:c.7362C>G XP_011520838.1:p.Gly2454=
XM_011522537.1:c.4362C>G XP_011520839.1:p.Gly1454=
XR_932867.1:n.7377C>G
XR_932868.1:n.7377C>G
XR_932869.1:n.7377C>G
XR_932870.1:n.7377C>G
XM_005255370.3:c.4239C>G XP_005255427.1:p.Gly1413=
XM_011522528.3:c.7338C>G XP_011520830.1:p.Gly2446=
XM_011522529.2:c.7338C>G XP_011520831.1:p.Gly2446=
XM_011522537.2:c.4362C>G XP_011520839.1:p.Gly1454=
XM_024450298.1:c.7404C>G XP_024306066.1:p.Gly2468=
XM_024450299.1:c.7332C>G XP_024306067.1:p.Gly2444=
XM_024450300.1:c.7194C>G XP_024306068.1:p.Gly2398=
XM_024450301.1:c.5280C>G XP_024306069.1:p.Gly1760=
NM_000296.4:c.7284C>G NP_000287.4:p.Gly2428=
NM_001009944.3:c.7284C>G MANE Select NP_001009944.3:p.Gly2428=