Canonical Allele Identifier: CA489921680
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1092673
ClinVar RCV Id: RCV001412558 RCV003120604 RCV003160649
dbSNP Id: rs1278027767
gnomAD v2: 15-38545401-G-C
gnomAD v4: 15-38253200-G-C
MyVariant Identifiers: chr15:g.38545401G>C (hg19) chr15:g.38253200G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253200G>C , CM000677.2:g.38253200G>C GRCh38
NC_000015.9:g.38545401G>C , CM000677.1:g.38545401G>C GRCh37
NC_000015.8:g.36332693G>C NCBI36
NG_008980.1:g.5350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.15G>C MANE Select ENSP00000299084.4:p.Thr5=
ENST00000299084.8:c.15G>C ENSP00000299084.4:p.Thr5=
ENST00000561205.1:n.353G>C
ENST00000561317.1:c.-113G>C ENSP00000453680.1:n.-113G>C
NM_152594.2:c.15G>C NP_689807.1:p.Thr5=
XM_005254202.2:c.15G>C XP_005254259.1:p.Thr5=
XM_005254203.3:c.-33G>C XP_005254260.1:n.-33G>C
XM_005254202.3:c.15G>C XP_005254259.1:p.Thr5=
XR_001751484.1:n.87+367C>G
NM_152594.3:c.15G>C MANE Select NP_689807.1:p.Thr5=
Search 100 bp 5'
Search 100 bp 3'