Canonical Allele Identifier: CA7470261
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453028
dbSNP Id: rs746414913

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351630G>T , CM000677.2:g.38351630G>T GRCh38
NC_000015.9:g.38643831G>T , CM000677.1:g.38643831G>T GRCh37
NC_000015.8:g.36431123G>T NCBI36
NG_008980.1:g.103780G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1301G>T MANE Select ENSP00000299084.4:p.Gly434Val
ENST00000299084.8:c.1301G>T ENSP00000299084.4:p.Gly434Val
NM_152594.2:c.1301G>T NP_689807.1:p.Gly434Val
XM_005254202.2:c.1337G>T XP_005254259.1:p.Gly446Val
XM_005254203.3:c.1079G>T XP_005254260.1:p.Gly360Val
XM_011521288.1:c.1238G>T XP_011519590.1:p.Gly413Val
XM_011521289.1:c.1238G>T XP_011519591.1:p.Gly413Val
XM_011521290.1:c.1238G>T XP_011519592.1:p.Gly413Val
XM_005254202.3:c.1337G>T XP_005254259.1:p.Gly446Val
XM_011521289.3:c.1238G>T XP_011519591.1:p.Gly413Val
NM_152594.3:c.1301G>T MANE Select NP_689807.1:p.Gly434Val