Canonical Allele Identifier: CA391933278
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351130G>C , CM000677.2:g.38351130G>C GRCh38
NC_000015.9:g.38643331G>C , CM000677.1:g.38643331G>C GRCh37
NC_000015.8:g.36430623G>C NCBI36
NG_008980.1:g.103280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.801G>C MANE Select ENSP00000299084.4:p.Trp267Cys
ENST00000299084.8:c.801G>C ENSP00000299084.4:p.Trp267Cys
NM_152594.2:c.801G>C NP_689807.1:p.Trp267Cys
XM_005254202.2:c.837G>C XP_005254259.1:p.Trp279Cys
XM_005254203.3:c.579G>C XP_005254260.1:p.Trp193Cys
XM_011521288.1:c.738G>C XP_011519590.1:p.Trp246Cys
XM_011521289.1:c.738G>C XP_011519591.1:p.Trp246Cys
XM_011521290.1:c.738G>C XP_011519592.1:p.Trp246Cys
XM_005254202.3:c.837G>C XP_005254259.1:p.Trp279Cys
XM_011521289.3:c.738G>C XP_011519591.1:p.Trp246Cys
NM_152594.3:c.801G>C MANE Select NP_689807.1:p.Trp267Cys