Canonical Allele Identifier: CA1682294

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 1443227
• ClinVar RCV Id: RCV001987454 ; RCV002562858
• dbSNP Id: rs373387599
• ExAC: 2:63631563 A / T
• gnomAD v2: 2-63631563-A-T
• gnomAD v3: 2-63404428-A-T
• gnomAD v4: 2-63404428-A-T
• MyVariant Identifiers: chr2:g.63631563A>T (hg19) ; chr2:g.63404428A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404428A>T , CM000664.2:g.63404428A>T	GRCh38
NC_000002.11:g.63631563A>T , CM000664.1:g.63631563A>T	GRCh37
NC_000002.10:g.63485067A>T	NCBI36
NG_028144.1:g.189305T>A
NG_028144.2:g.441398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1055T>A MANE Select	ENSP00000272321.7:p.Leu352Gln
ENST00000272321.11:c.1055T>A	ENSP00000272321.7:p.Leu352Gln
ENST00000398544.7:c.578T>A	ENSP00000381552.3:p.Leu193Gln
ENST00000409120.5:c.479T>A	ENSP00000386769.1:p.Leu160Gln
ENST00000409199.5:c.479T>A	ENSP00000386592.1:p.Leu160Gln
ENST00000409354.6:c.416T>A	ENSP00000386795.2:p.Leu139Gln
ENST00000409562.7:c.1055T>A	ENSP00000387222.3:p.Leu352Gln
ENST00000409835.5:n.1302T>A
ENST00000417238.5:c.*1166T>A	ENSP00000411429.1:n.*1166T>A
ENST00000493315.1:n.757T>A
NM_001042692.2:c.578T>A	NP_001036157.1:p.Leu193Gln
NM_015910.5:c.1055T>A	NP_056994.3:p.Leu352Gln
NR_122106.1:n.702T>A
XM_005264348.2:c.1055T>A	XP_005264405.1:p.Leu352Gln
XM_011532881.1:c.983T>A	XP_011531183.1:p.Leu328Gln
XM_011532882.1:c.956T>A	XP_011531184.1:p.Leu319Gln
XM_011532883.1:c.1055T>A	XP_011531185.1:p.Leu352Gln
XM_011532884.1:c.1055T>A	XP_011531186.1:p.Leu352Gln
XM_011532885.1:c.1055T>A	XP_011531187.1:p.Leu352Gln
XM_011532886.1:c.1055T>A	XP_011531188.1:p.Leu352Gln
XM_011532887.1:c.1055T>A	XP_011531189.1:p.Leu352Gln
XM_011532888.1:c.1055T>A	XP_011531190.1:p.Leu352Gln
XM_011532889.1:c.1055T>A	XP_011531191.1:p.Leu352Gln
XM_011532890.1:c.1055T>A	XP_011531192.1:p.Leu352Gln
XM_011532891.1:c.983T>A	XP_011531193.1:p.Leu328Gln
XR_244934.1:n.1302T>A
XR_244935.1:n.1302T>A
XR_939686.1:n.1302T>A
NM_001042692.3:c.578T>A	NP_001036157.1:p.Leu193Gln
NM_001354044.1:c.983T>A	NP_001340973.1:p.Leu328Gln
NM_001354045.1:c.1055T>A	NP_001340974.1:p.Leu352Gln
NM_015910.6:c.1055T>A	NP_056994.3:p.Leu352Gln
NR_122106.2:n.702T>A
NR_148704.1:n.1835T>A
NR_148705.1:n.1583T>A
XM_005264348.4:c.1055T>A	XP_005264405.1:p.Leu352Gln
XM_011532881.3:c.983T>A	XP_011531183.1:p.Leu328Gln
XM_011532884.3:c.1055T>A	XP_011531186.1:p.Leu352Gln
XM_011532887.3:c.1055T>A	XP_011531189.1:p.Leu352Gln
XM_011532890.3:c.1055T>A	XP_011531192.1:p.Leu352Gln
XM_011532891.2:c.983T>A	XP_011531193.1:p.Leu328Gln
XM_017004253.2:c.1055T>A	XP_016859742.1:p.Leu352Gln
XM_017004254.2:c.1055T>A	XP_016859743.1:p.Leu352Gln
XR_001738759.2:n.1517T>A
XR_001738760.2:n.1517T>A
XR_002959303.1:n.1517T>A
XR_244934.3:n.1517T>A
NM_015910.7:c.1055T>A MANE Select	NP_056994.3:p.Leu352Gln
NM_001354044.2:c.983T>A	NP_001340973.1:p.Leu328Gln
NM_001354045.2:c.1055T>A	NP_001340974.1:p.Leu352Gln
NR_148704.2:n.1513T>A
NR_148705.2:n.1261T>A