Canonical Allele Identifier: CA391931851
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 970869
ClinVar RCV Id: RCV001246524
dbSNP Id: rs1894018444

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253214A>G , CM000677.2:g.38253214A>G GRCh38
NC_000015.9:g.38545415A>G , CM000677.1:g.38545415A>G GRCh37
NC_000015.8:g.36332707A>G NCBI36
NG_008980.1:g.5364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.29A>G MANE Select ENSP00000299084.4:p.Asn10Ser
ENST00000299084.8:c.29A>G ENSP00000299084.4:p.Asn10Ser
ENST00000561205.1:n.367A>G
ENST00000561317.1:c.-99A>G ENSP00000453680.1:n.-99A>G
NM_152594.2:c.29A>G NP_689807.1:p.Asn10Ser
XM_005254202.2:c.29A>G XP_005254259.1:p.Asn10Ser
XM_005254203.3:c.-19A>G XP_005254260.1:n.-19A>G
XM_005254202.3:c.29A>G XP_005254259.1:p.Asn10Ser
XR_001751484.1:n.87+353T>C
NM_152594.3:c.29A>G MANE Select NP_689807.1:p.Asn10Ser