Canonical Allele Identifier: CA7470248
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022406
dbSNP Id: rs748390368

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351546C>T , CM000677.2:g.38351546C>T GRCh38
NC_000015.9:g.38643747C>T , CM000677.1:g.38643747C>T GRCh37
NC_000015.8:g.36431039C>T NCBI36
NG_008980.1:g.103696C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1217C>T MANE Select ENSP00000299084.4:p.Ala406Val
ENST00000299084.8:c.1217C>T ENSP00000299084.4:p.Ala406Val
NM_152594.2:c.1217C>T NP_689807.1:p.Ala406Val
XM_005254202.2:c.1253C>T XP_005254259.1:p.Ala418Val
XM_005254203.3:c.995C>T XP_005254260.1:p.Ala332Val
XM_011521288.1:c.1154C>T XP_011519590.1:p.Ala385Val
XM_011521289.1:c.1154C>T XP_011519591.1:p.Ala385Val
XM_011521290.1:c.1154C>T XP_011519592.1:p.Ala385Val
XM_005254202.3:c.1253C>T XP_005254259.1:p.Ala418Val
XM_011521289.3:c.1154C>T XP_011519591.1:p.Ala385Val
NM_152594.3:c.1217C>T MANE Select NP_689807.1:p.Ala406Val