Canonical Allele Identifier: CA391933426
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351194A>G , CM000677.2:g.38351194A>G GRCh38
NC_000015.9:g.38643395A>G , CM000677.1:g.38643395A>G GRCh37
NC_000015.8:g.36430687A>G NCBI36
NG_008980.1:g.103344A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.865A>G MANE Select ENSP00000299084.4:p.Lys289Glu
ENST00000299084.8:c.865A>G ENSP00000299084.4:p.Lys289Glu
NM_152594.2:c.865A>G NP_689807.1:p.Lys289Glu
XM_005254202.2:c.901A>G XP_005254259.1:p.Lys301Glu
XM_005254203.3:c.643A>G XP_005254260.1:p.Lys215Glu
XM_011521288.1:c.802A>G XP_011519590.1:p.Lys268Glu
XM_011521289.1:c.802A>G XP_011519591.1:p.Lys268Glu
XM_011521290.1:c.802A>G XP_011519592.1:p.Lys268Glu
XM_005254202.3:c.901A>G XP_005254259.1:p.Lys301Glu
XM_011521289.3:c.802A>G XP_011519591.1:p.Lys268Glu
NM_152594.3:c.865A>G MANE Select NP_689807.1:p.Lys289Glu