Canonical Allele Identifier: CA391933299
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351138A>T , CM000677.2:g.38351138A>T GRCh38
NC_000015.9:g.38643339A>T , CM000677.1:g.38643339A>T GRCh37
NC_000015.8:g.36430631A>T NCBI36
NG_008980.1:g.103288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.809A>T MANE Select ENSP00000299084.4:p.Asp270Val
ENST00000299084.8:c.809A>T ENSP00000299084.4:p.Asp270Val
NM_152594.2:c.809A>T NP_689807.1:p.Asp270Val
XM_005254202.2:c.845A>T XP_005254259.1:p.Asp282Val
XM_005254203.3:c.587A>T XP_005254260.1:p.Asp196Val
XM_011521288.1:c.746A>T XP_011519590.1:p.Asp249Val
XM_011521289.1:c.746A>T XP_011519591.1:p.Asp249Val
XM_011521290.1:c.746A>T XP_011519592.1:p.Asp249Val
XM_005254202.3:c.845A>T XP_005254259.1:p.Asp282Val
XM_011521289.3:c.746A>T XP_011519591.1:p.Asp249Val
NM_152594.3:c.809A>T MANE Select NP_689807.1:p.Asp270Val