Canonical Allele Identifier: CA7469947
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 229268
ClinVar RCV Id: RCV000222155
dbSNP Id: rs371200183
ExAC: 15:38545375 G / T
gnomAD v2: 15-38545375-G-T
gnomAD v4: 15-38253174-G-T
MyVariant Identifiers: chr15:g.38545375G>T (hg19) chr15:g.38253174G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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