Canonical Allele Identifier: CA391934813
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351635T>C , CM000677.2:g.38351635T>C GRCh38
NC_000015.9:g.38643836T>C , CM000677.1:g.38643836T>C GRCh37
NC_000015.8:g.36431128T>C NCBI36
NG_008980.1:g.103785T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1306T>C MANE Select ENSP00000299084.4:p.Cys436Arg
ENST00000299084.8:c.1306T>C ENSP00000299084.4:p.Cys436Arg
NM_152594.2:c.1306T>C NP_689807.1:p.Cys436Arg
XM_005254202.2:c.1342T>C XP_005254259.1:p.Cys448Arg
XM_005254203.3:c.1084T>C XP_005254260.1:p.Cys362Arg
XM_011521288.1:c.1243T>C XP_011519590.1:p.Cys415Arg
XM_011521289.1:c.1243T>C XP_011519591.1:p.Cys415Arg
XM_011521290.1:c.1243T>C XP_011519592.1:p.Cys415Arg
XM_005254202.3:c.1342T>C XP_005254259.1:p.Cys448Arg
XM_011521289.3:c.1243T>C XP_011519591.1:p.Cys415Arg
NM_152594.3:c.1306T>C MANE Select NP_689807.1:p.Cys436Arg