Canonical Allele Identifier: CA391933309
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351143G>A , CM000677.2:g.38351143G>A GRCh38
NC_000015.9:g.38643344G>A , CM000677.1:g.38643344G>A GRCh37
NC_000015.8:g.36430636G>A NCBI36
NG_008980.1:g.103293G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.814G>A MANE Select ENSP00000299084.4:p.Glu272Lys
ENST00000299084.8:c.814G>A ENSP00000299084.4:p.Glu272Lys
NM_152594.2:c.814G>A NP_689807.1:p.Glu272Lys
XM_005254202.2:c.850G>A XP_005254259.1:p.Glu284Lys
XM_005254203.3:c.592G>A XP_005254260.1:p.Glu198Lys
XM_011521288.1:c.751G>A XP_011519590.1:p.Glu251Lys
XM_011521289.1:c.751G>A XP_011519591.1:p.Glu251Lys
XM_011521290.1:c.751G>A XP_011519592.1:p.Glu251Lys
XM_005254202.3:c.850G>A XP_005254259.1:p.Glu284Lys
XM_011521289.3:c.751G>A XP_011519591.1:p.Glu251Lys
NM_152594.3:c.814G>A MANE Select NP_689807.1:p.Glu272Lys