Canonical Allele Identifier: CA347065190

Gene: WDPCP

Linked Data

• gnomAD v4: 2-63404408-A-C
• MyVariant Identifiers: chr2:g.63631543A>C (hg19) ; chr2:g.63404408A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404408A>C , CM000664.2:g.63404408A>C	GRCh38
NC_000002.11:g.63631543A>C , CM000664.1:g.63631543A>C	GRCh37
NC_000002.10:g.63485047A>C	NCBI36
NG_028144.1:g.189325T>G
NG_028144.2:g.441418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1075T>G MANE Select	ENSP00000272321.7:p.Ser359Ala
ENST00000272321.11:c.1075T>G	ENSP00000272321.7:p.Ser359Ala
ENST00000398544.7:c.598T>G	ENSP00000381552.3:p.Ser200Ala
ENST00000409120.5:c.499T>G	ENSP00000386769.1:p.Ser167Ala
ENST00000409199.5:c.499T>G	ENSP00000386592.1:p.Ser167Ala
ENST00000409354.6:c.436T>G	ENSP00000386795.2:p.Ser146Ala
ENST00000409562.7:c.1075T>G	ENSP00000387222.3:p.Ser359Ala
ENST00000409835.5:n.1322T>G
ENST00000417238.5:c.*1186T>G	ENSP00000411429.1:n.*1186T>G
ENST00000493315.1:n.777T>G
NM_001042692.2:c.598T>G	NP_001036157.1:p.Ser200Ala
NM_015910.5:c.1075T>G	NP_056994.3:p.Ser359Ala
NR_122106.1:n.722T>G
XM_005264348.2:c.1075T>G	XP_005264405.1:p.Ser359Ala
XM_011532881.1:c.1003T>G	XP_011531183.1:p.Ser335Ala
XM_011532882.1:c.976T>G	XP_011531184.1:p.Ser326Ala
XM_011532883.1:c.1075T>G	XP_011531185.1:p.Ser359Ala
XM_011532884.1:c.1075T>G	XP_011531186.1:p.Ser359Ala
XM_011532885.1:c.1075T>G	XP_011531187.1:p.Ser359Ala
XM_011532886.1:c.1075T>G	XP_011531188.1:p.Ser359Ala
XM_011532887.1:c.1075T>G	XP_011531189.1:p.Ser359Ala
XM_011532888.1:c.1075T>G	XP_011531190.1:p.Ser359Ala
XM_011532889.1:c.1075T>G	XP_011531191.1:p.Ser359Ala
XM_011532890.1:c.1075T>G	XP_011531192.1:p.Ser359Ala
XM_011532891.1:c.1003T>G	XP_011531193.1:p.Ser335Ala
XR_244934.1:n.1322T>G
XR_244935.1:n.1322T>G
XR_939686.1:n.1322T>G
NM_001042692.3:c.598T>G	NP_001036157.1:p.Ser200Ala
NM_001354044.1:c.1003T>G	NP_001340973.1:p.Ser335Ala
NM_001354045.1:c.1075T>G	NP_001340974.1:p.Ser359Ala
NM_015910.6:c.1075T>G	NP_056994.3:p.Ser359Ala
NR_122106.2:n.722T>G
NR_148704.1:n.1855T>G
NR_148705.1:n.1603T>G
XM_005264348.4:c.1075T>G	XP_005264405.1:p.Ser359Ala
XM_011532881.3:c.1003T>G	XP_011531183.1:p.Ser335Ala
XM_011532884.3:c.1075T>G	XP_011531186.1:p.Ser359Ala
XM_011532887.3:c.1075T>G	XP_011531189.1:p.Ser359Ala
XM_011532890.3:c.1075T>G	XP_011531192.1:p.Ser359Ala
XM_011532891.2:c.1003T>G	XP_011531193.1:p.Ser335Ala
XM_017004253.2:c.1075T>G	XP_016859742.1:p.Ser359Ala
XM_017004254.2:c.1075T>G	XP_016859743.1:p.Ser359Ala
XR_001738759.2:n.1537T>G
XR_001738760.2:n.1537T>G
XR_002959303.1:n.1537T>G
XR_244934.3:n.1537T>G
NM_015910.7:c.1075T>G MANE Select	NP_056994.3:p.Ser359Ala
NM_001354044.2:c.1003T>G	NP_001340973.1:p.Ser335Ala
NM_001354045.2:c.1075T>G	NP_001340974.1:p.Ser359Ala
NR_148704.2:n.1533T>G
NR_148705.2:n.1281T>G