Canonical Allele Identifier: CA391934203
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173880
ClinVar RCV Id: RCV002584805
dbSNP Id: rs1085307754

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351448G>C , CM000677.2:g.38351448G>C GRCh38
NC_000015.9:g.38643649G>C , CM000677.1:g.38643649G>C GRCh37
NC_000015.8:g.36430941G>C NCBI36
NG_008980.1:g.103598G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1119G>C MANE Select ENSP00000299084.4:p.Glu373Asp
ENST00000299084.8:c.1119G>C ENSP00000299084.4:p.Glu373Asp
NM_152594.2:c.1119G>C NP_689807.1:p.Glu373Asp
XM_005254202.2:c.1155G>C XP_005254259.1:p.Glu385Asp
XM_005254203.3:c.897G>C XP_005254260.1:p.Glu299Asp
XM_011521288.1:c.1056G>C XP_011519590.1:p.Glu352Asp
XM_011521289.1:c.1056G>C XP_011519591.1:p.Glu352Asp
XM_011521290.1:c.1056G>C XP_011519592.1:p.Glu352Asp
XM_005254202.3:c.1155G>C XP_005254259.1:p.Glu385Asp
XM_011521289.3:c.1056G>C XP_011519591.1:p.Glu352Asp
NM_152594.3:c.1119G>C MANE Select NP_689807.1:p.Glu373Asp