Canonical Allele Identifier: CA391931822
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309782
ClinVar RCV Id: RCV001756850
dbSNP Id: rs2140943407

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253199C>G , CM000677.2:g.38253199C>G GRCh38
NC_000015.9:g.38545400C>G , CM000677.1:g.38545400C>G GRCh37
NC_000015.8:g.36332692C>G NCBI36
NG_008980.1:g.5349C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.14C>G MANE Select ENSP00000299084.4:p.Thr5Arg
ENST00000299084.8:c.14C>G ENSP00000299084.4:p.Thr5Arg
ENST00000561205.1:n.352C>G
ENST00000561317.1:c.-114C>G ENSP00000453680.1:n.-114C>G
NM_152594.2:c.14C>G NP_689807.1:p.Thr5Arg
XM_005254202.2:c.14C>G XP_005254259.1:p.Thr5Arg
XM_005254203.3:c.-34C>G XP_005254260.1:n.-34C>G
XM_005254202.3:c.14C>G XP_005254259.1:p.Thr5Arg
XR_001751484.1:n.87+368G>C
NM_152594.3:c.14C>G MANE Select NP_689807.1:p.Thr5Arg