Canonical Allele Identifier: CA391931906
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 468795
ClinVar RCV Id: RCV000547389
dbSNP Id: rs1412213561

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38322254G>T , CM000677.2:g.38322254G>T GRCh38
NC_000015.9:g.38614455G>T , CM000677.1:g.38614455G>T GRCh37
NC_000015.8:g.36401747G>T NCBI36
NG_008980.1:g.74404G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.221G>T MANE Select ENSP00000299084.4:p.Cys74Phe
ENST00000299084.8:c.221G>T ENSP00000299084.4:p.Cys74Phe
ENST00000561205.1:n.559G>T
ENST00000561317.1:c.158G>T ENSP00000453680.1:p.Cys53Phe
NM_152594.2:c.221G>T NP_689807.1:p.Cys74Phe
XM_005254202.2:c.257G>T XP_005254259.1:p.Cys86Phe
XM_005254203.3:c.-2G>T XP_005254260.1:n.-2G>T
XM_011521288.1:c.158G>T XP_011519590.1:p.Cys53Phe
XM_011521289.1:c.158G>T XP_011519591.1:p.Cys53Phe
XM_011521290.1:c.158G>T XP_011519592.1:p.Cys53Phe
XM_005254202.3:c.257G>T XP_005254259.1:p.Cys86Phe
XM_011521289.3:c.158G>T XP_011519591.1:p.Cys53Phe
NM_152594.3:c.221G>T MANE Select NP_689807.1:p.Cys74Phe