Canonical Allele Identifier: CA391934451
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351509G>C , CM000677.2:g.38351509G>C GRCh38
NC_000015.9:g.38643710G>C , CM000677.1:g.38643710G>C GRCh37
NC_000015.8:g.36431002G>C NCBI36
NG_008980.1:g.103659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1180G>C MANE Select ENSP00000299084.4:p.Asp394His
ENST00000299084.8:c.1180G>C ENSP00000299084.4:p.Asp394His
NM_152594.2:c.1180G>C NP_689807.1:p.Asp394His
XM_005254202.2:c.1216G>C XP_005254259.1:p.Asp406His
XM_005254203.3:c.958G>C XP_005254260.1:p.Asp320His
XM_011521288.1:c.1117G>C XP_011519590.1:p.Asp373His
XM_011521289.1:c.1117G>C XP_011519591.1:p.Asp373His
XM_011521290.1:c.1117G>C XP_011519592.1:p.Asp373His
XM_005254202.3:c.1216G>C XP_005254259.1:p.Asp406His
XM_011521289.3:c.1117G>C XP_011519591.1:p.Asp373His
NM_152594.3:c.1180G>C MANE Select NP_689807.1:p.Asp394His