Canonical Allele Identifier: CA7470259
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 468792
dbSNP Id: rs200871227

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351624C>T , CM000677.2:g.38351624C>T GRCh38
NC_000015.9:g.38643825C>T , CM000677.1:g.38643825C>T GRCh37
NC_000015.8:g.36431117C>T NCBI36
NG_008980.1:g.103774C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.1295C>T MANE Select ENSP00000299084.4:p.Ala432Val
ENST00000299084.8:c.1295C>T ENSP00000299084.4:p.Ala432Val
NM_152594.2:c.1295C>T NP_689807.1:p.Ala432Val
XM_005254202.2:c.1331C>T XP_005254259.1:p.Ala444Val
XM_005254203.3:c.1073C>T XP_005254260.1:p.Ala358Val
XM_011521288.1:c.1232C>T XP_011519590.1:p.Ala411Val
XM_011521289.1:c.1232C>T XP_011519591.1:p.Ala411Val
XM_011521290.1:c.1232C>T XP_011519592.1:p.Ala411Val
XM_005254202.3:c.1331C>T XP_005254259.1:p.Ala444Val
XM_011521289.3:c.1232C>T XP_011519591.1:p.Ala411Val
NM_152594.3:c.1295C>T MANE Select NP_689807.1:p.Ala432Val