Canonical Allele Identifier: CA7470208
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1156496
dbSNP Id: rs140644874

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351268G>T , CM000677.2:g.38351268G>T GRCh38
NC_000015.9:g.38643469G>T , CM000677.1:g.38643469G>T GRCh37
NC_000015.8:g.36430761G>T NCBI36
NG_008980.1:g.103418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.939G>T MANE Select ENSP00000299084.4:p.Thr313=
ENST00000299084.8:c.939G>T ENSP00000299084.4:p.Thr313=
NM_152594.2:c.939G>T NP_689807.1:p.Thr313=
XM_005254202.2:c.975G>T XP_005254259.1:p.Thr325=
XM_005254203.3:c.717G>T XP_005254260.1:p.Thr239=
XM_011521288.1:c.876G>T XP_011519590.1:p.Thr292=
XM_011521289.1:c.876G>T XP_011519591.1:p.Thr292=
XM_011521290.1:c.876G>T XP_011519592.1:p.Thr292=
XM_005254202.3:c.975G>T XP_005254259.1:p.Thr325=
XM_011521289.3:c.876G>T XP_011519591.1:p.Thr292=
NM_152594.3:c.939G>T MANE Select NP_689807.1:p.Thr313=