Canonical Allele Identifier: CA347056554
Community Standard Title: NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)
Gene: WDPCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63174738G>T , CM000664.2:g.63174738G>T GRCh38
NC_000002.11:g.63401873G>T , CM000664.1:g.63401873G>T GRCh37
NC_000002.10:g.63255377G>T NCBI36
NG_028144.1:g.418995C>A
NG_028144.2:g.671088C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015910.7:c.2010C>A MANE Select NP_056994.3:p.Asn670Lys
ENST00000272321.12:c.2010C>A MANE Select ENSP00000272321.7:p.Asn670Lys
NM_001042692.2:c.1533C>A NP_001036157.1:p.Asn511Lys
NM_001042692.3:c.1533C>A NP_001036157.1:p.Asn511Lys
NM_001354044.1:c.1938C>A NP_001340973.1:p.Asn646Lys
NM_001354044.2:c.1938C>A NP_001340973.1:p.Asn646Lys
NM_015910.5:c.2010C>A NP_056994.3:p.Asn670Lys
NM_015910.6:c.2010C>A NP_056994.3:p.Asn670Lys
NR_122106.1:n.1653C>A
NR_122106.2:n.1653C>A
NR_148704.1:n.2786C>A
NR_148704.2:n.2464C>A
NR_148705.1:n.2435C>A
NR_148705.2:n.2113C>A
ENST00000272321.11:c.2010C>A ENSP00000272321.7:p.Asn670Lys
ENST00000398544.7:c.1533C>A ENSP00000381552.3:p.Asn511Lys
ENST00000409120.5:c.1434C>A ENSP00000386769.1:p.Asn478Lys
ENST00000409199.5:c.1434C>A ENSP00000386592.1:p.Asn478Lys
ENST00000409354.6:c.1268C>A ENSP00000386795.2:n.1268C>A
XM_005264348.2:c.2010C>A XP_005264405.1:p.Asn670Lys
XM_005264348.4:c.2010C>A XP_005264405.1:p.Asn670Lys
XM_011532881.1:c.1938C>A XP_011531183.1:p.Asn646Lys
XM_011532881.3:c.1938C>A XP_011531183.1:p.Asn646Lys
XM_011532882.1:c.1911C>A XP_011531184.1:p.Asn637Lys
XM_011532883.1:c.2010C>A XP_011531185.1:p.Asn670Lys
XR_001738759.2:n.2369C>A
XR_001738760.2:n.2467C>A
XR_002959303.1:n.2706C>A
XR_244934.1:n.2253C>A
XR_244934.3:n.2468C>A
XR_244935.1:n.2154C>A