Canonical Allele Identifier: CA1682290
Gene: WDPCP HGNC NCBI

Linked Data

dbSNP Id: rs376164426
gnomAD v2: 2-63631538-C-G
gnomAD v3: 2-63404403-C-G
gnomAD v4: 2-63404403-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63404403C>G , CM000664.2:g.63404403C>G GRCh38
NC_000002.11:g.63631538C>G , CM000664.1:g.63631538C>G GRCh37
NC_000002.10:g.63485042C>G NCBI36
NG_028144.1:g.189330G>C
NG_028144.2:g.441423G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272321.12:c.1080G>C MANE Select ENSP00000272321.7:p.Ser360=
ENST00000272321.11:c.1080G>C ENSP00000272321.7:p.Ser360=
ENST00000398544.7:c.603G>C ENSP00000381552.3:p.Ser201=
ENST00000409120.5:c.504G>C ENSP00000386769.1:p.Ser168=
ENST00000409199.5:c.504G>C ENSP00000386592.1:p.Ser168=
ENST00000409354.6:c.441G>C ENSP00000386795.2:p.Ser147=
ENST00000409562.7:c.1080G>C ENSP00000387222.3:p.Ser360=
ENST00000409835.5:n.1327G>C
ENST00000417238.5:c.*1191G>C ENSP00000411429.1:n.*1191G>C
ENST00000493315.1:n.782G>C
NM_001042692.2:c.603G>C NP_001036157.1:p.Ser201=
NM_015910.5:c.1080G>C NP_056994.3:p.Ser360=
NR_122106.1:n.727G>C
XM_005264348.2:c.1080G>C XP_005264405.1:p.Ser360=
XM_011532881.1:c.1008G>C XP_011531183.1:p.Ser336=
XM_011532882.1:c.981G>C XP_011531184.1:p.Ser327=
XM_011532883.1:c.1080G>C XP_011531185.1:p.Ser360=
XM_011532884.1:c.1080G>C XP_011531186.1:p.Ser360=
XM_011532885.1:c.1080G>C XP_011531187.1:p.Ser360=
XM_011532886.1:c.1080G>C XP_011531188.1:p.Ser360=
XM_011532887.1:c.1080G>C XP_011531189.1:p.Ser360=
XM_011532888.1:c.1080G>C XP_011531190.1:p.Ser360=
XM_011532889.1:c.1080G>C XP_011531191.1:p.Ser360=
XM_011532890.1:c.1080G>C XP_011531192.1:p.Ser360=
XM_011532891.1:c.1008G>C XP_011531193.1:p.Ser336=
XR_244934.1:n.1327G>C
XR_244935.1:n.1327G>C
XR_939686.1:n.1327G>C
NM_001042692.3:c.603G>C NP_001036157.1:p.Ser201=
NM_001354044.1:c.1008G>C NP_001340973.1:p.Ser336=
NM_001354045.1:c.1080G>C NP_001340974.1:p.Ser360=
NM_015910.6:c.1080G>C NP_056994.3:p.Ser360=
NR_122106.2:n.727G>C
NR_148704.1:n.1860G>C
NR_148705.1:n.1608G>C
XM_005264348.4:c.1080G>C XP_005264405.1:p.Ser360=
XM_011532881.3:c.1008G>C XP_011531183.1:p.Ser336=
XM_011532884.3:c.1080G>C XP_011531186.1:p.Ser360=
XM_011532887.3:c.1080G>C XP_011531189.1:p.Ser360=
XM_011532890.3:c.1080G>C XP_011531192.1:p.Ser360=
XM_011532891.2:c.1008G>C XP_011531193.1:p.Ser336=
XM_017004253.2:c.1080G>C XP_016859742.1:p.Ser360=
XM_017004254.2:c.1080G>C XP_016859743.1:p.Ser360=
XR_001738759.2:n.1542G>C
XR_001738760.2:n.1542G>C
XR_002959303.1:n.1542G>C
XR_244934.3:n.1542G>C
NM_015910.7:c.1080G>C MANE Select NP_056994.3:p.Ser360=
NM_001354044.2:c.1008G>C NP_001340973.1:p.Ser336=
NM_001354045.2:c.1080G>C NP_001340974.1:p.Ser360=
NR_148704.2:n.1538G>C
NR_148705.2:n.1286G>C