Canonical Allele Identifier: CA391933161
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1595763521

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351081G>A , CM000677.2:g.38351081G>A GRCh38
NC_000015.9:g.38643282G>A , CM000677.1:g.38643282G>A GRCh37
NC_000015.8:g.36430574G>A NCBI36
NG_008980.1:g.103231G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.752G>A MANE Select ENSP00000299084.4:p.Arg251Gln
ENST00000299084.8:c.752G>A ENSP00000299084.4:p.Arg251Gln
NM_152594.2:c.752G>A NP_689807.1:p.Arg251Gln
XM_005254202.2:c.788G>A XP_005254259.1:p.Arg263Gln
XM_005254203.3:c.530G>A XP_005254260.1:p.Arg177Gln
XM_011521288.1:c.689G>A XP_011519590.1:p.Arg230Gln
XM_011521289.1:c.689G>A XP_011519591.1:p.Arg230Gln
XM_011521290.1:c.689G>A XP_011519592.1:p.Arg230Gln
XM_005254202.3:c.788G>A XP_005254259.1:p.Arg263Gln
XM_011521289.3:c.689G>A XP_011519591.1:p.Arg230Gln
NM_152594.3:c.752G>A MANE Select NP_689807.1:p.Arg251Gln