Canonical Allele Identifier: CA7469988
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 981594
ClinVar RCV Id: RCV001261129 RCV001880007 RCV003442818 RCV004035385
dbSNP Id: rs757726772
ExAC: 15:38591588 G / A
gnomAD v2: 15-38591588-G-A
gnomAD v3: 15-38299387-G-A
gnomAD v4: 15-38299387-G-A
MyVariant Identifiers: chr15:g.38591588G>A (hg19) chr15:g.38299387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299387G>A , CM000677.2:g.38299387G>A GRCh38
NC_000015.9:g.38591588G>A , CM000677.1:g.38591588G>A GRCh37
NC_000015.8:g.36378880G>A NCBI36
NG_008980.1:g.51537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.47G>A MANE Select ENSP00000299084.4:p.Arg16Gln
ENST00000299084.8:c.47G>A ENSP00000299084.4:p.Arg16Gln
ENST00000561205.1:n.385G>A
ENST00000561317.1:c.-17G>A ENSP00000453680.1:n.-17G>A
NM_152594.2:c.47G>A NP_689807.1:p.Arg16Gln
XM_005254202.2:c.83G>A XP_005254259.1:p.Arg28Gln
XM_005254203.3:c.-15-22854G>A XP_005254260.1:n.-15-22854G>A
XM_011521288.1:c.-17G>A XP_011519590.1:n.-17G>A
XM_011521289.1:c.-17G>A XP_011519591.1:n.-17G>A
XM_011521290.1:c.-17G>A XP_011519592.1:n.-17G>A
XM_005254202.3:c.83G>A XP_005254259.1:p.Arg28Gln
XM_011521289.3:c.-17G>A XP_011519591.1:n.-17G>A
NM_152594.3:c.47G>A MANE Select NP_689807.1:p.Arg16Gln
Search 100 bp 5'
Search 100 bp 3'