Canonical Allele Identifier: CA391933315
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351145A>C , CM000677.2:g.38351145A>C GRCh38
NC_000015.9:g.38643346A>C , CM000677.1:g.38643346A>C GRCh37
NC_000015.8:g.36430638A>C NCBI36
NG_008980.1:g.103295A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.816A>C MANE Select ENSP00000299084.4:p.Glu272Asp
ENST00000299084.8:c.816A>C ENSP00000299084.4:p.Glu272Asp
NM_152594.2:c.816A>C NP_689807.1:p.Glu272Asp
XM_005254202.2:c.852A>C XP_005254259.1:p.Glu284Asp
XM_005254203.3:c.594A>C XP_005254260.1:p.Glu198Asp
XM_011521288.1:c.753A>C XP_011519590.1:p.Glu251Asp
XM_011521289.1:c.753A>C XP_011519591.1:p.Glu251Asp
XM_011521290.1:c.753A>C XP_011519592.1:p.Glu251Asp
XM_005254202.3:c.852A>C XP_005254259.1:p.Glu284Asp
XM_011521289.3:c.753A>C XP_011519591.1:p.Glu251Asp
NM_152594.3:c.816A>C MANE Select NP_689807.1:p.Glu272Asp