Canonical Allele Identifier: CA269282661
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1957433
ClinVar RCV Id: RCV002720505
dbSNP Id: rs202192533

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253229A>G , CM000677.2:g.38253229A>G GRCh38
NC_000015.9:g.38545430A>G , CM000677.1:g.38545430A>G GRCh37
NC_000015.8:g.36332722A>G NCBI36
NG_008980.1:g.5379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.32+12A>G MANE Select ENSP00000299084.4:n.32+12A>G
ENST00000299084.8:c.32+12A>G ENSP00000299084.4:n.32+12A>G
ENST00000561205.1:n.370+12A>G
ENST00000561317.1:c.-96+12A>G ENSP00000453680.1:n.-96+12A>G
NM_152594.2:c.32+12A>G NP_689807.1:n.32+12A>G
XM_005254202.2:c.32+12A>G XP_005254259.1:n.32+12A>G
XM_005254203.3:c.-16+12A>G XP_005254260.1:n.-16+12A>G
XM_005254202.3:c.32+12A>G XP_005254259.1:n.32+12A>G
XR_001751484.1:n.87+338T>C
NM_152594.3:c.32+12A>G MANE Select NP_689807.1:n.32+12A>G