Canonical Allele Identifier: CA391933319
Gene: SPRED1 HGNC NCBI

Linked Data

COSMIC: COSM95274

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351147G>T , CM000677.2:g.38351147G>T GRCh38
NC_000015.9:g.38643348G>T , CM000677.1:g.38643348G>T GRCh37
NC_000015.8:g.36430640G>T NCBI36
NG_008980.1:g.103297G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.818G>T MANE Select ENSP00000299084.4:p.Arg273Ile
ENST00000299084.8:c.818G>T ENSP00000299084.4:p.Arg273Ile
NM_152594.2:c.818G>T NP_689807.1:p.Arg273Ile
XM_005254202.2:c.854G>T XP_005254259.1:p.Arg285Ile
XM_005254203.3:c.596G>T XP_005254260.1:p.Arg199Ile
XM_011521288.1:c.755G>T XP_011519590.1:p.Arg252Ile
XM_011521289.1:c.755G>T XP_011519591.1:p.Arg252Ile
XM_011521290.1:c.755G>T XP_011519592.1:p.Arg252Ile
XM_005254202.3:c.854G>T XP_005254259.1:p.Arg285Ile
XM_011521289.3:c.755G>T XP_011519591.1:p.Arg252Ile
NM_152594.3:c.818G>T MANE Select NP_689807.1:p.Arg273Ile