Canonical Allele Identifier: CA391933156
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351078C>A , CM000677.2:g.38351078C>A GRCh38
NC_000015.9:g.38643279C>A , CM000677.1:g.38643279C>A GRCh37
NC_000015.8:g.36430571C>A NCBI36
NG_008980.1:g.103228C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.749C>A MANE Select ENSP00000299084.4:p.Pro250His
ENST00000299084.8:c.749C>A ENSP00000299084.4:p.Pro250His
NM_152594.2:c.749C>A NP_689807.1:p.Pro250His
XM_005254202.2:c.785C>A XP_005254259.1:p.Pro262His
XM_005254203.3:c.527C>A XP_005254260.1:p.Pro176His
XM_011521288.1:c.686C>A XP_011519590.1:p.Pro229His
XM_011521289.1:c.686C>A XP_011519591.1:p.Pro229His
XM_011521290.1:c.686C>A XP_011519592.1:p.Pro229His
XM_005254202.3:c.785C>A XP_005254259.1:p.Pro262His
XM_011521289.3:c.686C>A XP_011519591.1:p.Pro229His
NM_152594.3:c.749C>A MANE Select NP_689807.1:p.Pro250His