Canonical Allele Identifier: CA391933342
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351158G>C , CM000677.2:g.38351158G>C GRCh38
NC_000015.9:g.38643359G>C , CM000677.1:g.38643359G>C GRCh37
NC_000015.8:g.36430651G>C NCBI36
NG_008980.1:g.103308G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.829G>C MANE Select ENSP00000299084.4:p.Asp277His
ENST00000299084.8:c.829G>C ENSP00000299084.4:p.Asp277His
NM_152594.2:c.829G>C NP_689807.1:p.Asp277His
XM_005254202.2:c.865G>C XP_005254259.1:p.Asp289His
XM_005254203.3:c.607G>C XP_005254260.1:p.Asp203His
XM_011521288.1:c.766G>C XP_011519590.1:p.Asp256His
XM_011521289.1:c.766G>C XP_011519591.1:p.Asp256His
XM_011521290.1:c.766G>C XP_011519592.1:p.Asp256His
XM_005254202.3:c.865G>C XP_005254259.1:p.Asp289His
XM_011521289.3:c.766G>C XP_011519591.1:p.Asp256His
NM_152594.3:c.829G>C MANE Select NP_689807.1:p.Asp277His