Canonical Allele Identifier: CA391932897
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349479C>G , CM000677.2:g.38349479C>G GRCh38
NC_000015.9:g.38641680C>G , CM000677.1:g.38641680C>G GRCh37
NC_000015.8:g.36428972C>G NCBI36
NG_008980.1:g.101629C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.640C>G MANE Select ENSP00000299084.4:p.Arg214Gly
ENST00000299084.8:c.640C>G ENSP00000299084.4:p.Arg214Gly
NM_152594.2:c.640C>G NP_689807.1:p.Arg214Gly
XM_005254202.2:c.676C>G XP_005254259.1:p.Arg226Gly
XM_005254203.3:c.418C>G XP_005254260.1:p.Arg140Gly
XM_011521288.1:c.577C>G XP_011519590.1:p.Arg193Gly
XM_011521289.1:c.577C>G XP_011519591.1:p.Arg193Gly
XM_011521290.1:c.577C>G XP_011519592.1:p.Arg193Gly
XM_005254202.3:c.676C>G XP_005254259.1:p.Arg226Gly
XM_011521289.3:c.577C>G XP_011519591.1:p.Arg193Gly
NM_152594.3:c.640C>G MANE Select NP_689807.1:p.Arg214Gly