Canonical Allele Identifier: CA7469949
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 415718
ClinVar RCV Id: RCV000466135 RCV001260393 RCV001813484 RCV001637045 RCV004022975
dbSNP Id: rs201692618
ExAC: 15:38545416 C / A
gnomAD v2: 15-38545416-C-A
gnomAD v3: 15-38253215-C-A
gnomAD v4: 15-38253215-C-A
MyVariant Identifiers: chr15:g.38545416C>A (hg19) chr15:g.38253215C>A (hg38)
PubMed: PMID:22753041
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253215C>A , CM000677.2:g.38253215C>A GRCh38
NC_000015.9:g.38545416C>A , CM000677.1:g.38545416C>A GRCh37
NC_000015.8:g.36332708C>A NCBI36
NG_008980.1:g.5365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.30C>A MANE Select ENSP00000299084.4:p.Asn10Lys
ENST00000299084.8:c.30C>A ENSP00000299084.4:p.Asn10Lys
ENST00000561205.1:n.368C>A
ENST00000561317.1:c.-98C>A ENSP00000453680.1:n.-98C>A
NM_152594.2:c.30C>A NP_689807.1:p.Asn10Lys
XM_005254202.2:c.30C>A XP_005254259.1:p.Asn10Lys
XM_005254203.3:c.-18C>A XP_005254260.1:n.-18C>A
XM_005254202.3:c.30C>A XP_005254259.1:p.Asn10Lys
XR_001751484.1:n.87+352G>T
NM_152594.3:c.30C>A MANE Select NP_689807.1:p.Asn10Lys
Search 100 bp 5'
Search 100 bp 3'