Canonical Allele Identifier: CA7469946
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928827
ClinVar RCV Id: RCV001193309
dbSNP Id: rs371200183
ExAC: 15:38545375 G / C
gnomAD v2: 15-38545375-G-C
gnomAD v3: 15-38253174-G-C
gnomAD v4: 15-38253174-G-C
MyVariant Identifiers: chr15:g.38545375G>C (hg19) chr15:g.38253174G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253174G>C , CM000677.2:g.38253174G>C GRCh38
NC_000015.9:g.38545375G>C , CM000677.1:g.38545375G>C GRCh37
NC_000015.8:g.36332667G>C NCBI36
NG_008980.1:g.5324G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.-12G>C MANE Select ENSP00000299084.4:n.-12G>C
ENST00000299084.8:c.-12G>C ENSP00000299084.4:n.-12G>C
ENST00000561205.1:n.327G>C
NM_152594.2:c.-12G>C NP_689807.1:n.-12G>C
XM_005254202.2:c.-12G>C XP_005254259.1:n.-12G>C
XM_005254203.3:c.-59G>C XP_005254260.1:n.-59G>C
XM_005254202.3:c.-12G>C XP_005254259.1:n.-12G>C
XR_001751484.1:n.87+393C>G
NM_152594.3:c.-12G>C MANE Select NP_689807.1:n.-12G>C
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