Canonical Allele Identifier: CA7470256
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1326221
ClinVar RCV Id: RCV001786282 RCV002034619
dbSNP Id: rs368307475
ExAC: 15:38643803 A / G
gnomAD v2: 15-38643803-A-G
gnomAD v3: 15-38351602-A-G
gnomAD v4: 15-38351602-A-G
MyVariant Identifiers: chr15:g.38643803A>G (hg19) chr15:g.38351602A>G (hg38)
PubMed: PMID:22753041
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351602A>G , CM000677.2:g.38351602A>G GRCh38
NC_000015.9:g.38643803A>G , CM000677.1:g.38643803A>G GRCh37
NC_000015.8:g.36431095A>G NCBI36
NG_008980.1:g.103752A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1273A>G MANE Select ENSP00000299084.4:p.Met425Val
ENST00000299084.8:c.1273A>G ENSP00000299084.4:p.Met425Val
NM_152594.2:c.1273A>G NP_689807.1:p.Met425Val
XM_005254202.2:c.1309A>G XP_005254259.1:p.Met437Val
XM_005254203.3:c.1051A>G XP_005254260.1:p.Met351Val
XM_011521288.1:c.1210A>G XP_011519590.1:p.Met404Val
XM_011521289.1:c.1210A>G XP_011519591.1:p.Met404Val
XM_011521290.1:c.1210A>G XP_011519592.1:p.Met404Val
XM_005254202.3:c.1309A>G XP_005254259.1:p.Met437Val
XM_011521289.3:c.1210A>G XP_011519591.1:p.Met404Val
NM_152594.3:c.1273A>G MANE Select NP_689807.1:p.Met425Val
Search 100 bp 5'
Search 100 bp 3'