Canonical Allele Identifier: CA1682300

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 1042588
• ClinVar RCV Id: RCV001346567 ; RCV002493784
• dbSNP Id: rs779714128
• ExAC: 2:63631600 C / A
• gnomAD v2: 2-63631600-C-A
• gnomAD v3: 2-63404465-C-A
• gnomAD v4: 2-63404465-C-A
• MyVariant Identifiers: chr2:g.63631600C>A (hg19) ; chr2:g.63404465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404465C>A , CM000664.2:g.63404465C>A	GRCh38
NC_000002.11:g.63631600C>A , CM000664.1:g.63631600C>A	GRCh37
NC_000002.10:g.63485104C>A	NCBI36
NG_028144.1:g.189268G>T
NG_028144.2:g.441361G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1018G>T MANE Select	ENSP00000272321.7:p.Ala340Ser
ENST00000272321.11:c.1018G>T	ENSP00000272321.7:p.Ala340Ser
ENST00000398544.7:c.541G>T	ENSP00000381552.3:p.Ala181Ser
ENST00000409120.5:c.442G>T	ENSP00000386769.1:p.Ala148Ser
ENST00000409199.5:c.442G>T	ENSP00000386592.1:p.Ala148Ser
ENST00000409354.6:c.379G>T	ENSP00000386795.2:p.Ala127Ser
ENST00000409562.7:c.1018G>T	ENSP00000387222.3:p.Ala340Ser
ENST00000409835.5:n.1265G>T
ENST00000417238.5:c.*1129G>T	ENSP00000411429.1:n.*1129G>T
ENST00000493315.1:n.720G>T
NM_001042692.2:c.541G>T	NP_001036157.1:p.Ala181Ser
NM_015910.5:c.1018G>T	NP_056994.3:p.Ala340Ser
NR_122106.1:n.665G>T
XM_005264348.2:c.1018G>T	XP_005264405.1:p.Ala340Ser
XM_011532881.1:c.946G>T	XP_011531183.1:p.Ala316Ser
XM_011532882.1:c.919G>T	XP_011531184.1:p.Ala307Ser
XM_011532883.1:c.1018G>T	XP_011531185.1:p.Ala340Ser
XM_011532884.1:c.1018G>T	XP_011531186.1:p.Ala340Ser
XM_011532885.1:c.1018G>T	XP_011531187.1:p.Ala340Ser
XM_011532886.1:c.1018G>T	XP_011531188.1:p.Ala340Ser
XM_011532887.1:c.1018G>T	XP_011531189.1:p.Ala340Ser
XM_011532888.1:c.1018G>T	XP_011531190.1:p.Ala340Ser
XM_011532889.1:c.1018G>T	XP_011531191.1:p.Ala340Ser
XM_011532890.1:c.1018G>T	XP_011531192.1:p.Ala340Ser
XM_011532891.1:c.946G>T	XP_011531193.1:p.Ala316Ser
XR_244934.1:n.1265G>T
XR_244935.1:n.1265G>T
XR_939686.1:n.1265G>T
NM_001042692.3:c.541G>T	NP_001036157.1:p.Ala181Ser
NM_001354044.1:c.946G>T	NP_001340973.1:p.Ala316Ser
NM_001354045.1:c.1018G>T	NP_001340974.1:p.Ala340Ser
NM_015910.6:c.1018G>T	NP_056994.3:p.Ala340Ser
NR_122106.2:n.665G>T
NR_148704.1:n.1798G>T
NR_148705.1:n.1546G>T
XM_005264348.4:c.1018G>T	XP_005264405.1:p.Ala340Ser
XM_011532881.3:c.946G>T	XP_011531183.1:p.Ala316Ser
XM_011532884.3:c.1018G>T	XP_011531186.1:p.Ala340Ser
XM_011532887.3:c.1018G>T	XP_011531189.1:p.Ala340Ser
XM_011532890.3:c.1018G>T	XP_011531192.1:p.Ala340Ser
XM_011532891.2:c.946G>T	XP_011531193.1:p.Ala316Ser
XM_017004253.2:c.1018G>T	XP_016859742.1:p.Ala340Ser
XM_017004254.2:c.1018G>T	XP_016859743.1:p.Ala340Ser
XR_001738759.2:n.1480G>T
XR_001738760.2:n.1480G>T
XR_002959303.1:n.1480G>T
XR_244934.3:n.1480G>T
NM_015910.7:c.1018G>T MANE Select	NP_056994.3:p.Ala340Ser
NM_001354044.2:c.946G>T	NP_001340973.1:p.Ala316Ser
NM_001354045.2:c.1018G>T	NP_001340974.1:p.Ala340Ser
NR_148704.2:n.1476G>T
NR_148705.2:n.1224G>T