Canonical Allele Identifier: CA16042985
Gene: SPRED1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372718
dbSNP Id: rs1057517941

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299386C>T , CM000677.2:g.38299386C>T GRCh38
NC_000015.9:g.38591587C>T , CM000677.1:g.38591587C>T GRCh37
NC_000015.8:g.36378879C>T NCBI36
NG_008980.1:g.51536C>T

Transcript Alleles

HGVS Amino-acid change
NM_152594.2:c.46C>T VV NP_689807.1:p.Arg16Ter
XM_005254202.2:c.82C>T XP_005254259.1:p.Arg28Ter
XM_005254203.3:c.-15-22855C>T XP_005254260.1:p.=
XM_011521288.1:c.-18C>T XP_011519590.1:p.=
XM_011521289.1:c.-18C>T XP_011519591.1:p.=
XM_011521290.1:c.-18C>T XP_011519592.1:p.=
XM_005254202.3:c.82C>T XP_005254259.1:p.Arg28Ter
XM_011521289.3:c.-18C>T XP_011519591.1:p.=
NM_152594.3:c.46C>T VV MANE Preferred NP_689807.1:p.Arg16Ter
ENST00000299084.8:c.46C>T ENSP00000299084.4:p.Arg16Ter
ENST00000561205.1:n.384C>T
ENST00000561317.1:c.-18C>T ENSP00000453680.1:p.=