Canonical Allele Identifier: CA347056927
Gene: WDPCP HGNC NCBI

Linked Data

ClinVar Variation Id: 591518
dbSNP Id: rs763299856
gnomAD v4: 2-63174834-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63174834T>C , CM000664.2:g.63174834T>C GRCh38
NC_000002.11:g.63401969T>C , CM000664.1:g.63401969T>C GRCh37
NC_000002.10:g.63255473T>C NCBI36
NG_028144.1:g.418899A>G
NG_028144.2:g.670992A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272321.12:c.1916-2A>G MANE Select ENSP00000272321.7:n.1916-2A>G
ENST00000272321.11:c.1916-2A>G ENSP00000272321.7:n.1916-2A>G
ENST00000398544.7:c.1439-2A>G ENSP00000381552.3:n.1439-2A>G
ENST00000409120.5:c.1340-2A>G ENSP00000386769.1:n.1340-2A>G
ENST00000409199.5:c.1340-2A>G ENSP00000386592.1:n.1340-2A>G
ENST00000409354.6:c.1174-2A>G ENSP00000386795.2:n.1174-2A>G
NM_001042692.2:c.1439-2A>G NP_001036157.1:n.1439-2A>G
NM_015910.5:c.1916-2A>G NP_056994.3:n.1916-2A>G
NR_122106.1:n.1559-2A>G
XM_005264348.2:c.1916-2A>G XP_005264405.1:n.1916-2A>G
XM_011532881.1:c.1844-2A>G XP_011531183.1:n.1844-2A>G
XM_011532882.1:c.1817-2A>G XP_011531184.1:n.1817-2A>G
XM_011532883.1:c.1916-2A>G XP_011531185.1:n.1916-2A>G
XR_244934.1:n.2159-2A>G
XR_244935.1:n.2060-2A>G
XR_939686.1:n.2397-2A>G
NM_001042692.3:c.1439-2A>G NP_001036157.1:n.1439-2A>G
NM_001354044.1:c.1844-2A>G NP_001340973.1:n.1844-2A>G
NM_015910.6:c.1916-2A>G NP_056994.3:n.1916-2A>G
NR_122106.2:n.1559-2A>G
NR_148704.1:n.2692-2A>G
NR_148705.1:n.2341-2A>G
XM_005264348.4:c.1916-2A>G XP_005264405.1:n.1916-2A>G
XM_011532881.3:c.1844-2A>G XP_011531183.1:n.1844-2A>G
XR_001738759.2:n.2275-2A>G
XR_001738760.2:n.2373-2A>G
XR_002959303.1:n.2612-2A>G
XR_244934.3:n.2374-2A>G
NM_015910.7:c.1916-2A>G MANE Select NP_056994.3:n.1916-2A>G
NM_001354044.2:c.1844-2A>G NP_001340973.1:n.1844-2A>G
NR_148704.2:n.2370-2A>G
NR_148705.2:n.2019-2A>G