Canonical Allele Identifier: CA336976
Gene: SPART HGNC NCBI

Linked Data

ClinVar Variation Id: 216687
dbSNP Id: rs148833652

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36326691T>C , CM000675.2:g.36326691T>C GRCh38
NC_000013.10:g.36900828T>C , CM000675.1:g.36900828T>C GRCh37
NC_000013.9:g.35798828T>C NCBI36
NG_011559.1:g.48490A>G
NG_011559.2:g.48490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000438666.7:c.1172A>G MANE Select ENSP00000406061.2:p.Asp391Gly
ENST00000650221.1:c.1172A>G ENSP00000497209.1:p.Asp391Gly
ENST00000355182.8:c.1172A>G ENSP00000347314.4:p.Asp391Gly
ENST00000438666.6:c.1172A>G ENSP00000406061.2:p.Asp391Gly
ENST00000451493.5:c.1172A>G ENSP00000414147.1:p.Asp391Gly
ENST00000494062.2:c.1172A>G ENSP00000473599.1:p.Asp391Gly
ENST00000495510.1:n.1233A>G
NM_001142294.1:c.1172A>G NP_001135766.1:p.Asp391Gly
NM_001142295.1:c.1172A>G NP_001135767.1:p.Asp391Gly
NM_001142296.1:c.1172A>G NP_001135768.1:p.Asp391Gly
NM_015087.4:c.1172A>G NP_055902.1:p.Asp391Gly
XM_005266313.3:c.1172A>G XP_005266370.1:p.Asp391Gly
XM_005266314.2:c.1172A>G XP_005266371.1:p.Asp391Gly
XM_005266315.2:c.1172A>G XP_005266372.1:p.Asp391Gly
XM_005266316.2:c.1172A>G XP_005266373.1:p.Asp391Gly
XM_005266317.2:c.1172A>G XP_005266374.1:p.Asp391Gly
XM_011535012.1:c.1172A>G XP_011533314.1:p.Asp391Gly
XR_941540.1:n.1434A>G
XM_005266313.5:c.1172A>G XP_005266370.1:p.Asp391Gly
XM_005266314.3:c.1172A>G XP_005266371.1:p.Asp391Gly
XM_005266315.3:c.1172A>G XP_005266372.1:p.Asp391Gly
XM_005266317.3:c.1172A>G XP_005266374.1:p.Asp391Gly
XM_011535012.2:c.1172A>G XP_011533314.1:p.Asp391Gly
XM_024449334.1:c.1172A>G XP_024305102.1:p.Asp391Gly
XR_001749523.2:n.1400A>G
NM_015087.5:c.1172A>G MANE Select NP_055902.1:p.Asp391Gly
NM_001142296.2:c.1172A>G NP_001135768.1:p.Asp391Gly
NM_001142294.2:c.1172A>G NP_001135766.1:p.Asp391Gly
NM_001142295.2:c.1172A>G NP_001135767.1:p.Asp391Gly