Canonical Allele Identifier: CA391933532
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1765931
ClinVar RCV Id: RCV002378760
dbSNP Id: rs1448326986
gnomAD v2: 15-38643443-C-A
gnomAD v3: 15-38351242-C-A
gnomAD v4: 15-38351242-C-A
MyVariant Identifiers: chr15:g.38643443C>A (hg19) chr15:g.38351242C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351242C>A , CM000677.2:g.38351242C>A GRCh38
NC_000015.9:g.38643443C>A , CM000677.1:g.38643443C>A GRCh37
NC_000015.8:g.36430735C>A NCBI36
NG_008980.1:g.103392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.913C>A MANE Select ENSP00000299084.4:p.Pro305Thr
ENST00000299084.8:c.913C>A ENSP00000299084.4:p.Pro305Thr
NM_152594.2:c.913C>A NP_689807.1:p.Pro305Thr
XM_005254202.2:c.949C>A XP_005254259.1:p.Pro317Thr
XM_005254203.3:c.691C>A XP_005254260.1:p.Pro231Thr
XM_011521288.1:c.850C>A XP_011519590.1:p.Pro284Thr
XM_011521289.1:c.850C>A XP_011519591.1:p.Pro284Thr
XM_011521290.1:c.850C>A XP_011519592.1:p.Pro284Thr
XM_005254202.3:c.949C>A XP_005254259.1:p.Pro317Thr
XM_011521289.3:c.850C>A XP_011519591.1:p.Pro284Thr
NM_152594.3:c.913C>A MANE Select NP_689807.1:p.Pro305Thr
Search 100 bp 5'
Search 100 bp 3'