Canonical Allele Identifier: CA391934657
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1381308
ClinVar RCV Id: RCV001921924
dbSNP Id: rs1156410015

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351567T>C , CM000677.2:g.38351567T>C GRCh38
NC_000015.9:g.38643768T>C , CM000677.1:g.38643768T>C GRCh37
NC_000015.8:g.36431060T>C NCBI36
NG_008980.1:g.103717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1238T>C MANE Select ENSP00000299084.4:p.Ile413Thr
ENST00000299084.8:c.1238T>C ENSP00000299084.4:p.Ile413Thr
NM_152594.2:c.1238T>C NP_689807.1:p.Ile413Thr
XM_005254202.2:c.1274T>C XP_005254259.1:p.Ile425Thr
XM_005254203.3:c.1016T>C XP_005254260.1:p.Ile339Thr
XM_011521288.1:c.1175T>C XP_011519590.1:p.Ile392Thr
XM_011521289.1:c.1175T>C XP_011519591.1:p.Ile392Thr
XM_011521290.1:c.1175T>C XP_011519592.1:p.Ile392Thr
XM_005254202.3:c.1274T>C XP_005254259.1:p.Ile425Thr
XM_011521289.3:c.1175T>C XP_011519591.1:p.Ile392Thr
NM_152594.3:c.1238T>C MANE Select NP_689807.1:p.Ile413Thr