Canonical Allele Identifier: CA391933705
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351321A>T , CM000677.2:g.38351321A>T GRCh38
NC_000015.9:g.38643522A>T , CM000677.1:g.38643522A>T GRCh37
NC_000015.8:g.36430814A>T NCBI36
NG_008980.1:g.103471A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.992A>T MANE Select ENSP00000299084.4:p.Glu331Val
ENST00000299084.8:c.992A>T ENSP00000299084.4:p.Glu331Val
NM_152594.2:c.992A>T NP_689807.1:p.Glu331Val
XM_005254202.2:c.1028A>T XP_005254259.1:p.Glu343Val
XM_005254203.3:c.770A>T XP_005254260.1:p.Glu257Val
XM_011521288.1:c.929A>T XP_011519590.1:p.Glu310Val
XM_011521289.1:c.929A>T XP_011519591.1:p.Glu310Val
XM_011521290.1:c.929A>T XP_011519592.1:p.Glu310Val
XM_005254202.3:c.1028A>T XP_005254259.1:p.Glu343Val
XM_011521289.3:c.929A>T XP_011519591.1:p.Glu310Val
NM_152594.3:c.992A>T MANE Select NP_689807.1:p.Glu331Val