Canonical Allele Identifier: CA7831983
Gene: PKD1 HGNC NCBI

Linked Data

dbSNP Id: rs548315959
gnomAD v2: 16-2159731-C-T
gnomAD v3: 16-2109730-C-T
gnomAD v4: 16-2109730-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2109730C>T , CM000678.2:g.2109730C>T GRCh38
NC_000016.9:g.2159731C>T , CM000678.1:g.2159731C>T GRCh37
NC_000016.8:g.2099732C>T NCBI36
NG_008617.1:g.31169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.5437G>A MANE Select ENSP00000262304.4:p.Gly1813Arg
ENST00000262304.8:c.5437G>A ENSP00000262304.4:p.Gly1813Arg
ENST00000415938.7:n.310+2610G>A
ENST00000423118.5:c.5437G>A ENSP00000399501.1:p.Gly1813Arg
ENST00000468674.5:n.431-380G>A
ENST00000483024.1:c.233+2086G>A
ENST00000483731.5:n.790+2610G>A
ENST00000487932.5:c.124G>A ENSP00000457132.1:p.Gly42Arg
ENST00000488185.2:c.473-1372G>A
ENST00000565639.6:n.773+2610G>A
ENST00000568591.5:c.2226+2610G>A ENSP00000457162.1:n.2226+2610G>A
ENST00000569983.5:n.421+2610G>A
NM_000296.3:c.5437G>A NP_000287.3:p.Gly1813Arg
NM_001009944.2:c.5437G>A NP_001009944.2:p.Gly1813Arg
XM_005255370.2:c.2392G>A XP_005255427.1:p.Gly798Arg
XM_011522525.1:c.5515G>A XP_011520827.1:p.Gly1839Arg
XM_011522526.1:c.5515G>A XP_011520828.1:p.Gly1839Arg
XM_011522527.1:c.5515G>A XP_011520829.1:p.Gly1839Arg
XM_011522528.1:c.5491G>A XP_011520830.1:p.Gly1831Arg
XM_011522529.1:c.5491G>A XP_011520831.1:p.Gly1831Arg
XM_011522530.1:c.5461G>A XP_011520832.1:p.Gly1821Arg
XM_011522531.1:c.5443G>A XP_011520833.1:p.Gly1815Arg
XM_011522532.1:c.5389G>A XP_011520834.1:p.Gly1797Arg
XM_011522533.1:c.5308G>A XP_011520835.1:p.Gly1770Arg
XM_011522534.1:c.5251G>A XP_011520836.1:p.Gly1751Arg
XM_011522535.1:c.3337G>A XP_011520837.1:p.Gly1113Arg
XM_011522536.1:c.5515G>A XP_011520838.1:p.Gly1839Arg
XM_011522537.1:c.2515G>A XP_011520839.1:p.Gly839Arg
XR_932867.1:n.5530G>A
XR_932868.1:n.5530G>A
XR_932869.1:n.5530G>A
XR_932870.1:n.5530G>A
XM_005255370.3:c.2392G>A XP_005255427.1:p.Gly798Arg
XM_011522528.3:c.5491G>A XP_011520830.1:p.Gly1831Arg
XM_011522529.2:c.5491G>A XP_011520831.1:p.Gly1831Arg
XM_011522537.2:c.2515G>A XP_011520839.1:p.Gly839Arg
XM_024450298.1:c.5557G>A XP_024306066.1:p.Gly1853Arg
XM_024450299.1:c.5485G>A XP_024306067.1:p.Gly1829Arg
XM_024450300.1:c.5347G>A XP_024306068.1:p.Gly1783Arg
XM_024450301.1:c.3433G>A XP_024306069.1:p.Gly1145Arg
NM_000296.4:c.5437G>A NP_000287.4:p.Gly1813Arg
NM_001009944.3:c.5437G>A MANE Select NP_001009944.3:p.Gly1813Arg