Canonical Allele Identifier: CA347065286

Gene: WDPCP

Linked Data

• gnomAD v4: 2-63404452-C-A
• MyVariant Identifiers: chr2:g.63631587C>A (hg19) ; chr2:g.63404452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404452C>A , CM000664.2:g.63404452C>A	GRCh38
NC_000002.11:g.63631587C>A , CM000664.1:g.63631587C>A	GRCh37
NC_000002.10:g.63485091C>A	NCBI36
NG_028144.1:g.189281G>T
NG_028144.2:g.441374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1031G>T MANE Select	ENSP00000272321.7:p.Cys344Phe
ENST00000272321.11:c.1031G>T	ENSP00000272321.7:p.Cys344Phe
ENST00000398544.7:c.554G>T	ENSP00000381552.3:p.Cys185Phe
ENST00000409120.5:c.455G>T	ENSP00000386769.1:p.Cys152Phe
ENST00000409199.5:c.455G>T	ENSP00000386592.1:p.Cys152Phe
ENST00000409354.6:c.392G>T	ENSP00000386795.2:p.Cys131Phe
ENST00000409562.7:c.1031G>T	ENSP00000387222.3:p.Cys344Phe
ENST00000409835.5:n.1278G>T
ENST00000417238.5:c.*1142G>T	ENSP00000411429.1:n.*1142G>T
ENST00000493315.1:n.733G>T
NM_001042692.2:c.554G>T	NP_001036157.1:p.Cys185Phe
NM_015910.5:c.1031G>T	NP_056994.3:p.Cys344Phe
NR_122106.1:n.678G>T
XM_005264348.2:c.1031G>T	XP_005264405.1:p.Cys344Phe
XM_011532881.1:c.959G>T	XP_011531183.1:p.Cys320Phe
XM_011532882.1:c.932G>T	XP_011531184.1:p.Cys311Phe
XM_011532883.1:c.1031G>T	XP_011531185.1:p.Cys344Phe
XM_011532884.1:c.1031G>T	XP_011531186.1:p.Cys344Phe
XM_011532885.1:c.1031G>T	XP_011531187.1:p.Cys344Phe
XM_011532886.1:c.1031G>T	XP_011531188.1:p.Cys344Phe
XM_011532887.1:c.1031G>T	XP_011531189.1:p.Cys344Phe
XM_011532888.1:c.1031G>T	XP_011531190.1:p.Cys344Phe
XM_011532889.1:c.1031G>T	XP_011531191.1:p.Cys344Phe
XM_011532890.1:c.1031G>T	XP_011531192.1:p.Cys344Phe
XM_011532891.1:c.959G>T	XP_011531193.1:p.Cys320Phe
XR_244934.1:n.1278G>T
XR_244935.1:n.1278G>T
XR_939686.1:n.1278G>T
NM_001042692.3:c.554G>T	NP_001036157.1:p.Cys185Phe
NM_001354044.1:c.959G>T	NP_001340973.1:p.Cys320Phe
NM_001354045.1:c.1031G>T	NP_001340974.1:p.Cys344Phe
NM_015910.6:c.1031G>T	NP_056994.3:p.Cys344Phe
NR_122106.2:n.678G>T
NR_148704.1:n.1811G>T
NR_148705.1:n.1559G>T
XM_005264348.4:c.1031G>T	XP_005264405.1:p.Cys344Phe
XM_011532881.3:c.959G>T	XP_011531183.1:p.Cys320Phe
XM_011532884.3:c.1031G>T	XP_011531186.1:p.Cys344Phe
XM_011532887.3:c.1031G>T	XP_011531189.1:p.Cys344Phe
XM_011532890.3:c.1031G>T	XP_011531192.1:p.Cys344Phe
XM_011532891.2:c.959G>T	XP_011531193.1:p.Cys320Phe
XM_017004253.2:c.1031G>T	XP_016859742.1:p.Cys344Phe
XM_017004254.2:c.1031G>T	XP_016859743.1:p.Cys344Phe
XR_001738759.2:n.1493G>T
XR_001738760.2:n.1493G>T
XR_002959303.1:n.1493G>T
XR_244934.3:n.1493G>T
NM_015910.7:c.1031G>T MANE Select	NP_056994.3:p.Cys344Phe
NM_001354044.2:c.959G>T	NP_001340973.1:p.Cys320Phe
NM_001354045.2:c.1031G>T	NP_001340974.1:p.Cys344Phe
NR_148704.2:n.1489G>T
NR_148705.2:n.1237G>T