Canonical Allele Identifier: CA7470198
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380081
ClinVar RCV Id: RCV001917124 RCV002370430
dbSNP Id: rs200974459
ExAC: 15:38643417 G / A
gnomAD v2: 15-38643417-G-A
gnomAD v3: 15-38351216-G-A
gnomAD v4: 15-38351216-G-A
MyVariant Identifiers: chr15:g.38643417G>A (hg19) chr15:g.38351216G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351216G>A , CM000677.2:g.38351216G>A GRCh38
NC_000015.9:g.38643417G>A , CM000677.1:g.38643417G>A GRCh37
NC_000015.8:g.36430709G>A NCBI36
NG_008980.1:g.103366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.887G>A MANE Select ENSP00000299084.4:p.Cys296Tyr
ENST00000299084.8:c.887G>A ENSP00000299084.4:p.Cys296Tyr
NM_152594.2:c.887G>A NP_689807.1:p.Cys296Tyr
XM_005254202.2:c.923G>A XP_005254259.1:p.Cys308Tyr
XM_005254203.3:c.665G>A XP_005254260.1:p.Cys222Tyr
XM_011521288.1:c.824G>A XP_011519590.1:p.Cys275Tyr
XM_011521289.1:c.824G>A XP_011519591.1:p.Cys275Tyr
XM_011521290.1:c.824G>A XP_011519592.1:p.Cys275Tyr
XM_005254202.3:c.923G>A XP_005254259.1:p.Cys308Tyr
XM_011521289.3:c.824G>A XP_011519591.1:p.Cys275Tyr
NM_152594.3:c.887G>A MANE Select NP_689807.1:p.Cys296Tyr
Search 100 bp 5'
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