Canonical Allele Identifier: CA391933330
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351152G>C , CM000677.2:g.38351152G>C GRCh38
NC_000015.9:g.38643353G>C , CM000677.1:g.38643353G>C GRCh37
NC_000015.8:g.36430645G>C NCBI36
NG_008980.1:g.103302G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.823G>C MANE Select ENSP00000299084.4:p.Asp275His
ENST00000299084.8:c.823G>C ENSP00000299084.4:p.Asp275His
NM_152594.2:c.823G>C NP_689807.1:p.Asp275His
XM_005254202.2:c.859G>C XP_005254259.1:p.Asp287His
XM_005254203.3:c.601G>C XP_005254260.1:p.Asp201His
XM_011521288.1:c.760G>C XP_011519590.1:p.Asp254His
XM_011521289.1:c.760G>C XP_011519591.1:p.Asp254His
XM_011521290.1:c.760G>C XP_011519592.1:p.Asp254His
XM_005254202.3:c.859G>C XP_005254259.1:p.Asp287His
XM_011521289.3:c.760G>C XP_011519591.1:p.Asp254His
NM_152594.3:c.823G>C MANE Select NP_689807.1:p.Asp275His