Canonical Allele Identifier: CA7470206
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 507843
ClinVar RCV Id: RCV000603059 RCV001854153
dbSNP Id: rs766814966
ExAC: 15:38643468 C / T
gnomAD v2: 15-38643468-C-T
gnomAD v3: 15-38351267-C-T
gnomAD v4: 15-38351267-C-T
MyVariant Identifiers: chr15:g.38643468C>T (hg19) chr15:g.38351267C>T (hg38)
PubMed: PMID:19920235
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351267C>T , CM000677.2:g.38351267C>T GRCh38
NC_000015.9:g.38643468C>T , CM000677.1:g.38643468C>T GRCh37
NC_000015.8:g.36430760C>T NCBI36
NG_008980.1:g.103417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.938C>T MANE Select ENSP00000299084.4:p.Thr313Met
ENST00000299084.8:c.938C>T ENSP00000299084.4:p.Thr313Met
NM_152594.2:c.938C>T NP_689807.1:p.Thr313Met
XM_005254202.2:c.974C>T XP_005254259.1:p.Thr325Met
XM_005254203.3:c.716C>T XP_005254260.1:p.Thr239Met
XM_011521288.1:c.875C>T XP_011519590.1:p.Thr292Met
XM_011521289.1:c.875C>T XP_011519591.1:p.Thr292Met
XM_011521290.1:c.875C>T XP_011519592.1:p.Thr292Met
XM_005254202.3:c.974C>T XP_005254259.1:p.Thr325Met
XM_011521289.3:c.875C>T XP_011519591.1:p.Thr292Met
NM_152594.3:c.938C>T MANE Select NP_689807.1:p.Thr313Met
Search 100 bp 5'
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