Canonical Allele Identifier: CA391931854
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966373
ClinVar RCV Id: RCV001241033
dbSNP Id: rs1445226319
gnomAD v2: 15-38545417-G-A
gnomAD v4: 15-38253216-G-A
MyVariant Identifiers: chr15:g.38545417G>A (hg19) chr15:g.38253216G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253216G>A , CM000677.2:g.38253216G>A GRCh38
NC_000015.9:g.38545417G>A , CM000677.1:g.38545417G>A GRCh37
NC_000015.8:g.36332709G>A NCBI36
NG_008980.1:g.5366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.31G>A MANE Select ENSP00000299084.4:p.Asp11Asn
ENST00000299084.8:c.31G>A ENSP00000299084.4:p.Asp11Asn
ENST00000561205.1:n.369G>A
ENST00000561317.1:c.-97G>A ENSP00000453680.1:n.-97G>A
NM_152594.2:c.31G>A NP_689807.1:p.Asp11Asn
XM_005254202.2:c.31G>A XP_005254259.1:p.Glu11Lys
XM_005254203.3:c.-17G>A XP_005254260.1:n.-17G>A
XM_005254202.3:c.31G>A XP_005254259.1:p.Glu11Lys
XR_001751484.1:n.87+351C>T
NM_152594.3:c.31G>A MANE Select NP_689807.1:p.Asp11Asn
Search 100 bp 5'
Search 100 bp 3'