Canonical Allele Identifier: CA387857564

Gene: SPART

Linked Data

• dbSNP Id: rs200373703
• gnomAD v2: 13-36888478-G-C
• gnomAD v4: 13-36314341-G-C
• MyVariant Identifiers: chr13:g.36888478G>C (hg19) ; chr13:g.36314341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36314341G>C , CM000675.2:g.36314341G>C	GRCh38
NC_000013.10:g.36888478G>C , CM000675.1:g.36888478G>C	GRCh37
NC_000013.9:g.35786478G>C	NCBI36
NG_011559.1:g.60840C>G
NG_011559.2:g.60840C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000438666.7:c.1369C>G MANE Select	ENSP00000406061.2:p.Arg457Gly
ENST00000650221.1:c.1369C>G	ENSP00000497209.1:p.Arg457Gly
ENST00000355182.8:c.1369C>G	ENSP00000347314.4:p.Arg457Gly
ENST00000438666.6:c.1369C>G	ENSP00000406061.2:p.Arg457Gly
ENST00000451493.5:c.1369C>G	ENSP00000414147.1:p.Arg457Gly
ENST00000475603.5:n.130C>G
ENST00000482146.1:n.101C>G
ENST00000494062.2:c.1369C>G	ENSP00000473599.1:p.Arg457Gly
NM_001142294.1:c.1369C>G	NP_001135766.1:p.Arg457Gly
NM_001142295.1:c.1369C>G	NP_001135767.1:p.Arg457Gly
NM_001142296.1:c.1369C>G	NP_001135768.1:p.Arg457Gly
NM_015087.4:c.1369C>G	NP_055902.1:p.Arg457Gly
XM_005266313.3:c.1369C>G	XP_005266370.1:p.Arg457Gly
XM_005266314.2:c.1369C>G	XP_005266371.1:p.Arg457Gly
XM_005266315.2:c.1369C>G	XP_005266372.1:p.Arg457Gly
XM_005266316.2:c.1369C>G	XP_005266373.1:p.Arg457Gly
XM_005266317.2:c.1369C>G	XP_005266374.1:p.Arg457Gly
XM_011535012.1:c.1369C>G	XP_011533314.1:p.Arg457Gly
XR_941540.1:n.1631C>G
XM_005266313.5:c.1369C>G	XP_005266370.1:p.Arg457Gly
XM_005266314.3:c.1369C>G	XP_005266371.1:p.Arg457Gly
XM_005266315.3:c.1369C>G	XP_005266372.1:p.Arg457Gly
XM_005266317.3:c.1369C>G	XP_005266374.1:p.Arg457Gly
XM_011535012.2:c.1369C>G	XP_011533314.1:p.Arg457Gly
XM_024449334.1:c.1369C>G	XP_024305102.1:p.Arg457Gly
XR_001749523.2:n.1597C>G
NM_015087.5:c.1369C>G MANE Select	NP_055902.1:p.Arg457Gly
NM_001142296.2:c.1369C>G	NP_001135768.1:p.Arg457Gly
NM_001142294.2:c.1369C>G	NP_001135766.1:p.Arg457Gly
NM_001142295.2:c.1369C>G	NP_001135767.1:p.Arg457Gly