Canonical Allele Identifier: CA347065355
Gene: WDPCP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63404483T>A , CM000664.2:g.63404483T>A GRCh38
NC_000002.11:g.63631618T>A , CM000664.1:g.63631618T>A GRCh37
NC_000002.10:g.63485122T>A NCBI36
NG_028144.1:g.189250A>T
NG_028144.2:g.441343A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272321.12:c.1000A>T MANE Select ENSP00000272321.7:p.Ile334Leu
ENST00000272321.11:c.1000A>T ENSP00000272321.7:p.Ile334Leu
ENST00000398544.7:c.523A>T ENSP00000381552.3:p.Ile175Leu
ENST00000409120.5:c.424A>T ENSP00000386769.1:p.Ile142Leu
ENST00000409199.5:c.424A>T ENSP00000386592.1:p.Ile142Leu
ENST00000409354.6:c.361A>T ENSP00000386795.2:p.Ile121Leu
ENST00000409562.7:c.1000A>T ENSP00000387222.3:p.Ile334Leu
ENST00000409835.5:n.1247A>T
ENST00000417238.5:c.*1111A>T ENSP00000411429.1:n.*1111A>T
ENST00000493315.1:n.702A>T
NM_001042692.2:c.523A>T NP_001036157.1:p.Ile175Leu
NM_015910.5:c.1000A>T NP_056994.3:p.Ile334Leu
NR_122106.1:n.647A>T
XM_005264348.2:c.1000A>T XP_005264405.1:p.Ile334Leu
XM_011532881.1:c.928A>T XP_011531183.1:p.Ile310Leu
XM_011532882.1:c.901A>T XP_011531184.1:p.Ile301Leu
XM_011532883.1:c.1000A>T XP_011531185.1:p.Ile334Leu
XM_011532884.1:c.1000A>T XP_011531186.1:p.Ile334Leu
XM_011532885.1:c.1000A>T XP_011531187.1:p.Ile334Leu
XM_011532886.1:c.1000A>T XP_011531188.1:p.Ile334Leu
XM_011532887.1:c.1000A>T XP_011531189.1:p.Ile334Leu
XM_011532888.1:c.1000A>T XP_011531190.1:p.Ile334Leu
XM_011532889.1:c.1000A>T XP_011531191.1:p.Ile334Leu
XM_011532890.1:c.1000A>T XP_011531192.1:p.Ile334Leu
XM_011532891.1:c.928A>T XP_011531193.1:p.Ile310Leu
XR_244934.1:n.1247A>T
XR_244935.1:n.1247A>T
XR_939686.1:n.1247A>T
NM_001042692.3:c.523A>T NP_001036157.1:p.Ile175Leu
NM_001354044.1:c.928A>T NP_001340973.1:p.Ile310Leu
NM_001354045.1:c.1000A>T NP_001340974.1:p.Ile334Leu
NM_015910.6:c.1000A>T NP_056994.3:p.Ile334Leu
NR_122106.2:n.647A>T
NR_148704.1:n.1780A>T
NR_148705.1:n.1528A>T
XM_005264348.4:c.1000A>T XP_005264405.1:p.Ile334Leu
XM_011532881.3:c.928A>T XP_011531183.1:p.Ile310Leu
XM_011532884.3:c.1000A>T XP_011531186.1:p.Ile334Leu
XM_011532887.3:c.1000A>T XP_011531189.1:p.Ile334Leu
XM_011532890.3:c.1000A>T XP_011531192.1:p.Ile334Leu
XM_011532891.2:c.928A>T XP_011531193.1:p.Ile310Leu
XM_017004253.2:c.1000A>T XP_016859742.1:p.Ile334Leu
XM_017004254.2:c.1000A>T XP_016859743.1:p.Ile334Leu
XR_001738759.2:n.1462A>T
XR_001738760.2:n.1462A>T
XR_002959303.1:n.1462A>T
XR_244934.3:n.1462A>T
NM_015910.7:c.1000A>T MANE Select NP_056994.3:p.Ile334Leu
NM_001354044.2:c.928A>T NP_001340973.1:p.Ile310Leu
NM_001354045.2:c.1000A>T NP_001340974.1:p.Ile334Leu
NR_148704.2:n.1458A>T
NR_148705.2:n.1206A>T