Canonical Allele Identifier: CA391933574
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351263A>G , CM000677.2:g.38351263A>G GRCh38
NC_000015.9:g.38643464A>G , CM000677.1:g.38643464A>G GRCh37
NC_000015.8:g.36430756A>G NCBI36
NG_008980.1:g.103413A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.934A>G MANE Select ENSP00000299084.4:p.Lys312Glu
ENST00000299084.8:c.934A>G ENSP00000299084.4:p.Lys312Glu
NM_152594.2:c.934A>G NP_689807.1:p.Lys312Glu
XM_005254202.2:c.970A>G XP_005254259.1:p.Lys324Glu
XM_005254203.3:c.712A>G XP_005254260.1:p.Lys238Glu
XM_011521288.1:c.871A>G XP_011519590.1:p.Lys291Glu
XM_011521289.1:c.871A>G XP_011519591.1:p.Lys291Glu
XM_011521290.1:c.871A>G XP_011519592.1:p.Lys291Glu
XM_005254202.3:c.970A>G XP_005254259.1:p.Lys324Glu
XM_011521289.3:c.871A>G XP_011519591.1:p.Lys291Glu
NM_152594.3:c.934A>G MANE Select NP_689807.1:p.Lys312Glu