Canonical Allele Identifier: CA269293444
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs946203764

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.818G>C MANE Select ENSP00000299084.4:p.Arg273Thr
ENST00000299084.8:c.818G>C ENSP00000299084.4:p.Arg273Thr
NM_152594.2:c.818G>C NP_689807.1:p.Arg273Thr
XM_005254202.2:c.854G>C XP_005254259.1:p.Arg285Thr
XM_005254203.3:c.596G>C XP_005254260.1:p.Arg199Thr
XM_011521288.1:c.755G>C XP_011519590.1:p.Arg252Thr
XM_011521289.1:c.755G>C XP_011519591.1:p.Arg252Thr
XM_011521290.1:c.755G>C XP_011519592.1:p.Arg252Thr
XM_005254202.3:c.854G>C XP_005254259.1:p.Arg285Thr
XM_011521289.3:c.755G>C XP_011519591.1:p.Arg252Thr
NM_152594.3:c.818G>C MANE Select NP_689807.1:p.Arg273Thr