Canonical Allele Identifier: CA391931921
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38322260T>A , CM000677.2:g.38322260T>A GRCh38
NC_000015.9:g.38614461T>A , CM000677.1:g.38614461T>A GRCh37
NC_000015.8:g.36401753T>A NCBI36
NG_008980.1:g.74410T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.227T>A MANE Select ENSP00000299084.4:p.Leu76His
ENST00000299084.8:c.227T>A ENSP00000299084.4:p.Leu76His
ENST00000561205.1:n.565T>A
ENST00000561317.1:c.164T>A ENSP00000453680.1:p.Leu55His
NM_152594.2:c.227T>A NP_689807.1:p.Leu76His
XM_005254202.2:c.263T>A XP_005254259.1:p.Leu88His
XM_005254203.3:c.5T>A XP_005254260.1:p.Leu2His
XM_011521288.1:c.164T>A XP_011519590.1:p.Leu55His
XM_011521289.1:c.164T>A XP_011519591.1:p.Leu55His
XM_011521290.1:c.164T>A XP_011519592.1:p.Leu55His
XM_005254202.3:c.263T>A XP_005254259.1:p.Leu88His
XM_011521289.3:c.164T>A XP_011519591.1:p.Leu55His
NM_152594.3:c.227T>A MANE Select NP_689807.1:p.Leu76His