Canonical Allele Identifier: CA251955
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1813
ClinVar RCV Id: RCV000001886
dbSNP Id: rs121434315

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299530C>T , CM000677.2:g.38299530C>T GRCh38
NC_000015.9:g.38591731C>T , CM000677.1:g.38591731C>T GRCh37
NC_000015.8:g.36379023C>T NCBI36
NG_008980.1:g.51680C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.190C>T MANE Select ENSP00000299084.4:p.Arg64Ter
ENST00000299084.8:c.190C>T ENSP00000299084.4:p.Arg64Ter
ENST00000561205.1:n.528C>T
ENST00000561317.1:c.127C>T ENSP00000453680.1:p.Arg43Ter
NM_152594.2:c.190C>T NP_689807.1:p.Arg64Ter
XM_005254202.2:c.226C>T XP_005254259.1:p.Arg76Ter
XM_005254203.3:c.-15-22711C>T XP_005254260.1:n.-15-22711C>T
XM_011521288.1:c.127C>T XP_011519590.1:p.Arg43Ter
XM_011521289.1:c.127C>T XP_011519591.1:p.Arg43Ter
XM_011521290.1:c.127C>T XP_011519592.1:p.Arg43Ter
XM_005254202.3:c.226C>T XP_005254259.1:p.Arg76Ter
XM_011521289.3:c.127C>T XP_011519591.1:p.Arg43Ter
NM_152594.3:c.190C>T MANE Select NP_689807.1:p.Arg64Ter