Canonical Allele Identifier: CA347062554
Community Standard Title: NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
Gene: WDPCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63259404A>C , CM000664.2:g.63259404A>C GRCh38
NC_000002.11:g.63486539A>C , CM000664.1:g.63486539A>C GRCh37
NC_000002.10:g.63340043A>C NCBI36
NG_028144.1:g.334329T>G
NG_028144.2:g.586422T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015910.7:c.1818T>G MANE Select NP_056994.3:p.Ile606Met
ENST00000272321.12:c.1818T>G MANE Select ENSP00000272321.7:p.Ile606Met
NM_001042692.2:c.1341T>G NP_001036157.1:p.Ile447Met
NM_001042692.3:c.1341T>G NP_001036157.1:p.Ile447Met
NM_001354044.1:c.1746T>G NP_001340973.1:p.Ile582Met
NM_001354044.2:c.1746T>G NP_001340973.1:p.Ile582Met
NM_015910.5:c.1818T>G NP_056994.3:p.Ile606Met
NM_015910.6:c.1818T>G NP_056994.3:p.Ile606Met
NR_122106.1:n.1465T>G
NR_122106.2:n.1465T>G
NR_148704.1:n.2598T>G
NR_148704.2:n.2276T>G
NR_148705.1:n.2340+53844T>G
NR_148705.2:n.2018+53844T>G
ENST00000272321.11:c.1818T>G ENSP00000272321.7:p.Ile606Met
ENST00000398544.7:c.1341T>G ENSP00000381552.3:p.Ile447Met
ENST00000409120.5:c.1242T>G ENSP00000386769.1:p.Ile414Met
ENST00000409199.5:c.1242T>G ENSP00000386592.1:p.Ile414Met
ENST00000409354.6:c.1173+53844T>G ENSP00000386795.2:n.1173+53844T>G
ENST00000409562.7:c.1813-29532T>G ENSP00000387222.3:n.1813-29532T>G
XM_005264348.2:c.1818T>G XP_005264405.1:p.Ile606Met
XM_005264348.4:c.1818T>G XP_005264405.1:p.Ile606Met
XM_011532881.1:c.1746T>G XP_011531183.1:p.Ile582Met
XM_011532881.3:c.1746T>G XP_011531183.1:p.Ile582Met
XM_011532882.1:c.1719T>G XP_011531184.1:p.Ile573Met
XM_011532883.1:c.1818T>G XP_011531185.1:p.Ile606Met
XM_011532884.1:c.1818T>G XP_011531186.1:p.Ile606Met
XM_011532884.3:c.1818T>G XP_011531186.1:p.Ile606Met
XM_011532885.1:c.1818T>G XP_011531187.1:p.Ile606Met
XM_011532887.1:c.1818T>G XP_011531189.1:p.Ile606Met
XM_011532887.3:c.1818T>G XP_011531189.1:p.Ile606Met
XM_017004254.2:c.1813-49748T>G XP_016859743.1:n.1813-49748T>G
XR_001738759.2:n.2274+53844T>G
XR_001738760.2:n.2275T>G
XR_002959303.1:n.2280T>G
XR_244934.1:n.2065T>G
XR_244934.3:n.2280T>G
XR_244935.1:n.2059+53844T>G
XR_939686.1:n.2065T>G